LIVIVO - Search results -

Search results

Result 1 - 10 of total 96

Search options

Article ; Online: Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Hajjaj, Anass / van Overdam, Koen A / Oldenburg, Rogier A / Koopmans, Anna E / van den Ouweland, Ans M W / de Klein, Annelies / Kiliç, Emine

Acta ophthalmologica

2020

Abstract: Purpose: Evaluation of phenotype and treatment outcome of retinal haemangioblastomas (RH) in von Hippel-Lindau (VHL) disease and correlation of these features with the genotype of VHL germline mutation carriers.: Methods: Retrospective analysis of a ... ...

Abstract	Purpose: Evaluation of phenotype and treatment outcome of retinal haemangioblastomas (RH) in von Hippel-Lindau (VHL) disease and correlation of these features with the genotype of VHL germline mutation carriers. Methods: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and RH. Clinical and genetic data were obtained to analyse the correlation of genotype with phenotype and treatment outcomes. Results: All patients were categorized in two genotypic categories: missense mutations (MM) and truncating mutations (TM). Mean follow-up duration was 16.3 years and did not differ significantly between mutation groups (p = 0.383). Missense mutations (MM) carriers (n = 6) developed more progression-related complications compared to TM carriers (n = 15) (p = 0.046). Vitreoretinal surgery was more often applied in MM carriers (p = 0.036). Moderate (visual acuity (VA)20/80 to 20/200) to severe (VA < 20/200) visual impairment was observed in 53.3% of the eyes of MM carriers and 28.1% of the eyes of TM carriers at last recorded visit. Conclusion: Missense mutations in VHL patients seem to have a higher prevalence of progression-related complications. Missense mutations (MM) carriers required therefore more often vitreoretinal surgical treatment with a worse treatment outcome. Genetic analysis may play a role in determining a pro-active treatment strategy and prognosis for RH.
Language	English
Publishing date	2020-01-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2408333-1
ISSN	1755-3768 ; 1755-375X
ISSN (online)	1755-3768
ISSN	1755-375X
DOI	10.1111/aos.14360
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Ul I Zs.90: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.

Goverde, Anne / Eikenboom, Ellis L / Viskil, Ellemieke L / Bruno, Marco J / Doukas, Michael / Dinjens, Winand N M / Dubbink, Erik Jan / van den Ouweland, Ans M W / Hofstra, Robert M W / Wagner, Anja / Spaander, Manon C W

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association

2019 Volume 18, Issue 5, Page(s) 1112–1120.e1

Abstract: Background & aims: Patients with Lynch syndrome are offered the same colorectal cancer (CRC) surveillance programs (colonoscopy every 2 years), regardless of the pathogenic DNA mismatch repair gene variant the patient carries. We aimed to assess the ... ...

Abstract	Background & aims: Patients with Lynch syndrome are offered the same colorectal cancer (CRC) surveillance programs (colonoscopy every 2 years), regardless of the pathogenic DNA mismatch repair gene variant the patient carries. We aimed to assess the yield of surveillance for patients with these variants in MLH1, MSH2, MSH6, and PMS2. Methods: We analyzed data on colonoscopy surveillance, including histopathology analysis, from all patients diagnosed with Lynch syndrome (n = 264) at a single center. We compared the development of (advanced) adenomas and CRC among patients with pathogenic variants in the DNA mismatch repair genes MLH1 (n = 55), MSH2 (n = 44), MSH6 (n = 143), or PMS2 (n = 22) over 1836 years of follow-up (median follow-up of 6 years per patient). Results: At first colonoscopy, CRC was found in 8 patients. During 916 follow-up colonoscopies, CRC was found in 9 patients. No CRC was found in patients with variants in MSH6 or PMS2 over the entire follow-up period. There were no significant differences in the number of colonoscopies with adenomas or advanced adenomas among the groups. The median time of adenoma development was 3 years (IQR, 2-6 years). There were no significant differences in time to development of adenoma. However, patients with variants in MSH6 had a significant longer time to development of advanced neoplasia (advanced adenoma or CRC) than patients in the other groups. Six carriers died during follow up (5 from cancer, of which 3 from pancreatic cancer). Conclusions: No CRC was found during follow-up of patients with Lynch syndrome carrying pathogenic variants in MSH6; advanced neoplasia developed over shorter follow-up time periods in patients with pathogenic variants in MLH1 or MSH2. The colonoscopy interval for patients with pathogenic variants in MSH6 might be increased to 3 years from the regular 2-year interval.
MeSH term(s)	Adenoma/epidemiology ; Adenoma/genetics ; Colonoscopy ; Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis ; Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; DNA Mismatch Repair/genetics ; DNA-Binding Proteins/genetics ; Humans ; MutL Protein Homolog 1/genetics
Chemical Substances	DNA-Binding Proteins ; MutL Protein Homolog 1 (EC 3.6.1.3)
Language	English
Publishing date	2019-08-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	2119789-1
ISSN	1542-7714 ; 1542-3565
ISSN (online)	1542-7714
ISSN	1542-3565
DOI	10.1016/j.cgh.2019.08.043
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5836: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

Tudini, Emma / Moghadasi, Setareh / Parsons, Michael T / van der Kolk, Lizet / van den Ouweland, Ans M W / Niederacher, Dieter / Feliubadaló, Lídia / Wappenschmidt, Barbara / Spurdle, Amanda B / Lazaro, Conxi

Breast cancer research and treatment

2018 Volume 172, Issue 2, Page(s) 497–503

Abstract: Purpose: Classification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T p.(Gly1770Val) has been shown to ...

Abstract	Purpose: Classification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T p.(Gly1770Val) has been shown to abrogate BRCA1 protein homologous DNA repair; however, multiple sequence alignment demonstrates a lack of sequence conservation at this position, suggesting that glycine at position 1770 may not be essential for cellular maintenance in humans. We analyzed clinical information to resolve the classification of BRCA1 c.5309G>T p.(Gly1770Val). Methods: We performed multifactorial likelihood analysis combining segregation data for 14 informative families, and breast tumor histopathological data for 17 variant carriers, ascertained through the ENIGMA consortium. Results: Bayes segregation analysis gave a likelihood ratio of 101:1 in favor of pathogenicity. The vast majority of breast tumors showed features indicative of pathogenic variant carrier status, resulting in a likelihood ratio of 15800794:1 towards pathogenicity. Despite a low prior probability of pathogenicity (0.03) based on bioinformatic prediction, multifactorial likelihood analysis including segregation and histopathology analysis gave a posterior probability of > 0.99 and final classification of Pathogenic. Conclusions: We provide evidence that BRCA1 c.5309G>T p.(Gly1770Val), previously described as a Moroccan founder variant, should be treated as a disease-causing variant despite a lack of evolutionary conservation at this amino acid position. Additionally, we stress that bioinformatic information should be used in combination with other data, either direct clinical evidence or some form of clinical calibration, to arrive at a final clinical classification.
MeSH term(s)	Animals ; BRCA1 Protein/genetics ; Bayes Theorem ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Conserved Sequence ; DNA Repair/genetics ; Evolution, Molecular ; Female ; Genetic Predisposition to Disease ; Humans ; Mice ; Mutation, Missense/genetics ; Sequence Alignment
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human
Language	English
Publishing date	2018-08-13
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	604563-7
ISSN	1573-7217 ; 0167-6806
ISSN (online)	1573-7217
ISSN	0167-6806
DOI	10.1007/s10549-018-4903-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1655: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Tarailo-Graovac, Maja / Drögemöller, Britt I / Wasserman, Wyeth W / Ross, Colin J D / van den Ouweland, Ans M W / Darin, Niklas / Kollberg, Gittan / van Karnebeek, Clara D M / Blomqvist, Maria

Orphanet journal of rare diseases

2017 Volume 12, Issue 1, Page(s) 28

Abstract: Background: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the ...

Abstract	Background: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Hypomyelination and corpus callosum hypoplasia are typical as well. We report a 16 year-old boy with an atypically mild clinical phenotype of sialic acid storage disease characterized by psychomotor retardation and a mixture of spasticity and rigidity but no ataxia, and only weak features of hypomyelination and thinning of corpus callosum on MRI of the brain. Results: The thiobarbituric acid method showed elevated levels of free sialic acid in urine and fibroblasts, indicating sialic acid storage disease. Initial Sanger sequencing of SLC17A5 coding regions did not show any pathogenic variants, although exon 9 could not be sequenced. Whole exome sequencing followed by RNA and genomic DNA analysis identified a homozygous 6040 bp insertion in intron 9 of SLC17A5 corresponding to a long interspersed element-1 retrotransposon (KF425758.1). This insertion adds two splice sites, both resulting in a frameshift which in turn creates a premature stop codon 4 bp into intron 9. Conclusions: This study describes a novel pathogenic variant in SLC17A5, namely an intronic transposal insertion, in a patient with mild biochemical and clinical phenotypes. The presence of a small fraction of normal transcript may explain the mild phenotype. This case illustrates the importance of including lysosomal sialic acid storage disease in the differential diagnosis of developmental delay with postnatal onset and hypomyelination, as well as intronic regions in the genetic investigation of inborn errors of metabolism.
MeSH term(s)	DNA Transposable Elements/genetics ; Exons/genetics ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Humans ; Introns/genetics ; Male ; N-Acetylneuraminic Acid/metabolism ; Organic Anion Transporters/genetics ; Polymerase Chain Reaction ; Sialic Acid Storage Disease/genetics ; Skin/cytology ; Symporters/genetics ; Whole Exome Sequencing/methods
Chemical Substances	DNA Transposable Elements ; Organic Anion Transporters ; Symporters ; sialic acid transport proteins ; N-Acetylneuraminic Acid (GZP2782OP0)
Language	English
Publishing date	2017-02-10
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-017-0584-6
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar

Hollink, Iris H I M / van den Ouweland, Ans M W / Beverloo, H Berna / Arentsen-Peters, Susan T C J M / Zwaan, C Michel / Wagner, Anja

Journal of medical genetics

2017 Volume 54, Issue 12, Page(s) 805–808

Abstract: Background: Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A (: Methods and results: Here we ...

Abstract	Background: Recently a novel syndromic form of overgrowth with intellectual disability and distinct facial features was identified caused by constitutional mutations in the epigenetic regulator DNA-methyltransferase 3A ( Methods and results: Here we present the first case of TBRS who developed AML at the age of 15 years. Whole-exome sequencing identified a constitutional heterozygous Discussion: The peculiarity of the specific R882 mutation in contrast to other
MeSH term(s)	DNA (Cytosine-5-)-Methyltransferases/genetics ; Facies ; Genotype ; Humans ; Intellectual Disability/complications ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Karyotype ; Leukemia, Myeloid, Acute/complications ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/therapy ; Male ; Mutation ; Phenotype ; Polymorphism, Single Nucleotide ; Syndrome ; Whole Exome Sequencing ; Young Adult
Chemical Substances	DNA (Cytosine-5-)-Methyltransferases (EC 2.1.1.37) ; DNA methyltransferase 3A (EC 2.1.1.37)
Language	English
Publishing date	2017-04-21
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2017-104574
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 177: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.

Verkerk, Annemieke J M H / Andrei, Daniela / Vermeer, Mathilde C S C / Kramer, Duco / Schouten, Marloes / Arp, Pascal / Verlouw, Joost A M / Pas, Hendri H / Meijer, Hillegonda J / van der Molen, Marije / Oberdorf-Maass, Silke / Nijenhuis, Miranda / Romero-Herrera, Pedro H / Hoes, Martijn F / Bremer, Jeroen / Slotman, Johan A / van den Akker, Peter C / Diercks, Gilles F H / Giepmans, Ben N G /

Stoop, Hans / Saris, Jasper J / van den Ouweland, Ans M W / Willemsen, Rob / Hublin, Jean-Jacques / Dean, M Christopher / Hoogeboom, A Jeannette M / Silljé, Herman H W / Uitterlinden, André G / van der Meer, Peter / Bolling, Maria C

The Journal of investigative dermatology

2023 Volume 144, Issue 2, Page(s) 284–295.e16

Abstract: Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a ...

Abstract	Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair, and mild palmoplantar keratoderma but without a cardiac phenotype, we identified a homozygous splice-site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of TUFT1 protein. Patients' skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that TUFT1 is positioned within the desmosome and that its location is dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1-knockout mouse model mimicked the patients' phenotypes. Altogether, this study reveals TUFT1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair, and palmoplantar keratoderma.
MeSH term(s)	Animals ; Humans ; Mice ; Desmoplakins/genetics ; Desmoplakins/metabolism ; Desmosomes/metabolism ; Hair/metabolism ; Hair Diseases/genetics ; Hair Diseases/metabolism ; Keratoderma, Palmoplantar/genetics ; Keratoderma, Palmoplantar/metabolism ; Skin/metabolism ; Skin Abnormalities/metabolism
Chemical Substances	Desmoplakins ; tuftelin
Language	English
Publishing date	2023-09-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	80136-7
ISSN	1523-1747 ; 0022-202X
ISSN (online)	1523-1747
ISSN	0022-202X
DOI	10.1016/j.jid.2023.02.044
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Ui VI Zs.124: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).

Mayer, Karin / Fonatsch, Christa / Wimmer, Katharina / van den Ouweland, Ans M W / Maat-Kievit, Anneke J A

European journal of human genetics : EJHG

2013 Volume 22, Issue 2

MeSH term(s)	DNA Mutational Analysis ; Genetic Testing ; Humans ; Molecular Diagnostic Techniques ; Sensitivity and Specificity ; Tuberous Sclerosis/diagnosis ; Tuberous Sclerosis/genetics
Language	English
Publishing date	2013-06-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2013.129
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3589: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Hulsebos, Theo J M / Kenter, Susan / Baas, Frank / Nannenberg, Eline A / Bleeker, Fonnet E / van Minkelen, Rick / van den Ouweland, Ans M W / Wesseling, Pieter / Flucke, Uta

Genes, chromosomes & cancer

2016 Volume 55, Issue 4, Page(s) 350–354

Abstract: In schwannomatosis, germline SMARCB1 or LZTR1 mutations predispose to the development of multiple benign schwannomas. Besides these, other tumors may occur in schwannomatosis patients. We present a 45-year-old male patient who developed multiple ... ...

Abstract	In schwannomatosis, germline SMARCB1 or LZTR1 mutations predispose to the development of multiple benign schwannomas. Besides these, other tumors may occur in schwannomatosis patients. We present a 45-year-old male patient who developed multiple schwannomas and in addition a malignant type 1 papillary renal cell carcinoma (pRCC1). We identified a duplication of exon 7 of SMARCB1 on chromosome 22 in the constitutional DNA of the patient (c.796-2246_986 + 5250dup7686), resulting in the generation of a premature stop codon in the second exon 7 copy (p.Glu330*). The mutant SMARCB1 allele proved to be retained in three schwannomas and in the pRCC1 of the patient. Loss of heterozygosity analysis demonstrated partial loss of the wild-type SMARCB1 allele containing chromosome 22, suggesting loss of that chromosome in only a subset of tumor cells, in all four tumors. Immunohistochemical staining with a SMARCB1 antibody revealed a mosaic SMARCB1 expression pattern in the three benign schwannomas, but absence of expression in the malignant tumor cells of the pRCC1. To our knowledge, this difference in SMARCB1 protein expression has not been reported before. We conclude that a germline SMARCB1 mutation may predispose to the development of pRCC1, thereby further widening the spectrum of tumors that can develop in the context of schwannomatosis.
MeSH term(s)	Carcinoma, Renal Cell/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Chromosomes, Human, Pair 22 ; DNA-Binding Proteins/genetics ; Gene Expression Profiling ; Germ-Line Mutation ; Humans ; Kidney Neoplasms/genetics ; Male ; Middle Aged ; Neurilemmoma/genetics ; SMARCB1 Protein ; Transcription Factors/genetics
Chemical Substances	Chromosomal Proteins, Non-Histone ; DNA-Binding Proteins ; SMARCB1 Protein ; SMARCB1 protein, human ; Transcription Factors
Language	English
Publishing date	2016-04
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1018988-9
ISSN	1098-2264 ; 1045-2257
ISSN (online)	1098-2264
ISSN	1045-2257
DOI	10.1002/gcc.22338
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 2966: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Croonen, Ellen A / Yntema, Helger G / van Minkelen, Rick / van den Ouweland, Ans M W / van der Burgt, Ineke

Clinical dysmorphology

2012 Volume 21, Issue 4, Page(s) 212–214

MeSH term(s)	Child ; Child, Preschool ; Diagnosis, Differential ; Humans ; Infant ; Infant, Newborn ; Mutation/genetics ; Neurofibromatosis 1/genetics ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics
Language	English
Publishing date	2012-10
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0b013e3283557231
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3528: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

van Minkelen, Rick / Guitart, Miriam / Escofet, Conxita / Yoon, Grace / Elfferich, Peter / Bolman, Galhana M / van der Helm, Robert / van de Graaf, Raoul / van den Ouweland, Ans M W

BMC medical genetics

2015 Volume 16, Page(s) 61

Abstract: Background: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral ... ...

Abstract	Background: Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in APTX (chromosome 9p21.1). Case presentation: Our patient has a clinical presentation that is typical for ataxia with oculomotor apraxia type 1 with no particularly severe phenotype. Multiplex Ligation-dependent Probe Amplification analysis resulted in the identification of a homozygous deletion of all coding APTX exons (3 to 9). SNP array analysis using the Illumina Infinium CytoSNP-850 K microarray indicated that the deletion was about 62 kb. Based on the SNP array results, the breakpoints were found using direct sequence analysis: c.-5 + 1225_44991del67512, p.0?. Both parents were heterozygous for the deletion. Homozygous complete APTX deletions have been described in literature for two other patients. We obtained a sample from one of these two patients and characterized the deletion (156 kb) as c.-23729_115366del155489, p.0?, including the non-coding exons 1A and 2 of APTX. The more severe phenotype reported for this patient is not observed in our patient. It remains unclear whether the larger size of the deletion (156 kb vs 62 kb) plays a role in the phenotype (no extra genes are deleted). Conclusion: Here we described an ataxia with oculomotor apraxia type 1 patient who has a homozygous deletion of the complete coding region of APTX. In contrast to the patient with the large deletion, our patient does not have a severe phenotype. More patients with deletions of APTX are required to investigate a genotype-phenotype effect.
MeSH term(s)	Base Sequence ; DNA-Binding Proteins/deficiency ; Electromyography ; Gene Deletion ; Humans ; Male ; Microarray Analysis ; Molecular Sequence Data ; Morocco ; Nuclear Proteins/deficiency ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Sequence Analysis, DNA ; Spinocerebellar Ataxias/congenital ; Spinocerebellar Degenerations/genetics
Chemical Substances	APTX protein, human ; DNA-Binding Proteins ; Nuclear Proteins
Language	English
Publishing date	2015-08-19
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/s12881-015-0213-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Full text

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- Full text online
- Order with fees

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Order via subito

Inter-library loan at ZB MED