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Article: The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

Bezniakow, Natalia / Gos, Monika / Obersztyn, Ewa

2014 Volume 18, Issue 3, Page(s) 285–296

Abstract: ... mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review ...

Abstract	The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group.
MeSH term(s)	Arteriovenous Malformations/genetics ; Capillaries/abnormalities ; Costello Syndrome ; Craniofacial Abnormalities/genetics ; Ectodermal Dysplasia/genetics ; Facies ; Failure to Thrive/genetics ; Germ-Line Mutation ; Heart Defects, Congenital/genetics ; Humans ; LEOPARD Syndrome/genetics ; MAP Kinase Signaling System/genetics ; Mitogen-Activated Protein Kinases/genetics ; Neurofibromatosis 1/genetics ; Noonan Syndrome ; Port-Wine Stain/genetics ; Signal Transduction/genetics ; ras Proteins/genetics
Chemical Substances	Mitogen-Activated Protein Kinases (EC 2.7.11.24) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2014-07
Publishing country	Poland
Document type	Journal Article ; Review
ZDB-ID	2576573-5
ISSN	1428-345X
ISSN	1428-345X
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

Smigiel, Robert / Bezniakow, Natalia / Jakubiak, Aleksandra / Błoch, Michał / Patkowski, Dariusz / Obersztyn, Ewa / Sasiadek, Maria M

Journal of applied genetics

2015 Volume 56, Issue 2, Page(s) 199–204

Abstract: We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were ... ...

Abstract	We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described. In addition, among other major defects, esophageal atresia (EA) in one patient and choanal atresia in two of them were present. Three different mutations in EFTUD2 gene were found in presented patients. Our observations confirm the clinical heterogeneity of mandibulofacial dysostosis type Guion-Almeida and its connection with major congenital defects such as esophageal atresia and choanal atresia.
MeSH term(s)	Adolescent ; Child, Preschool ; Choanal Atresia/genetics ; Diagnosis, Differential ; Esophageal Atresia/genetics ; Female ; Humans ; Intellectual Disability/genetics ; Male ; Mandibulofacial Dysostosis/genetics ; Microcephaly/genetics ; Peptide Elongation Factors/genetics ; Phenotype ; Poland ; Ribonucleoprotein, U5 Small Nuclear/genetics
Chemical Substances	EFTUD2 protein, human ; Peptide Elongation Factors ; Ribonucleoprotein, U5 Small Nuclear
Language	English
Publishing date	2015-05
Publishing country	England
Document type	Journal Article
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-014-0255-4
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Article: Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Smigiel, Robert / Bezniakow, Natalia / Jakubiak, Aleksandra / Błoch, Michał / Patkowski, Dariusz / Obersztyn, Ewa / Sasiadek, Maria M

Journal of applied genetics. 2015 May, v. 56, no. 2

2015

Abstract	We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described. In addition, among other major defects, esophageal atresia (EA) in one patient and choanal atresia in two of them were present. Three different mutations in EFTUD2 gene were found in presented patients. Our observations confirm the clinical heterogeneity of mandibulofacial dysostosis type Guion-Almeida and its connection with major congenital defects such as esophageal atresia and choanal atresia.
Keywords	abnormal development ; congenital abnormalities ; genes ; mutation ; patients ; phenotype ; speech
Language	English
Dates of publication	2015-05
Size	p. 199-204.
Publishing place	Springer-Verlag
Document type	Article
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-014-0255-4
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Article: The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Bartnik, Magdalena / Wiśniowiecka-Kowalnik, Barbara / Nowakowska, Beata / Smyk, Marta / Kędzior, Marta / Sobecka, Katarzyna / Kutkowska-Kaźmierczak, Anna / Klapecki, Jakub / Szczałuba, Krzysztof / Castañeda, Jennifer / Własienko, Paweł / Bezniakow, Natalia / Obersztyn, Ewa / Bocian, Ewa

Developmental period medicine

2014 Volume 18, Issue 3, Page(s) 307–317

Abstract: Introduction: Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is ... ...

Abstract	Introduction: Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is recommended by the International Standards for Cytogenomic Arrays (ISCA) Consortium as a first line test in the diagnostics of ID/DD, replacing G-banded chromosome analysis. The aim: Application of array CGH in clinical diagnostics of developmental delay/ intellectual disability in children. Material and methods: We present the results of 8x60K oligonucleotide array application that was successfully implemented in a cohort of 112 patients with the clinical diagnosis of intellectual disability and accompanying dysmorphic features and/or congenital malformations. Results: We have identified 37 copy number variants (CNVs) with the size ranging from 40 kb to numerical chromosomal aberrations, including unbalanced translocations and chromosome Y disomy, receiving an overall diagnostic yield of 33%. Known pathogenic changes were identified in 21.4% of the cases. Among patients with pathogenic CNVs identified by array CGH, 41.7% had a previously normal karyotype analysis. Conclusions: Our studies provide more insights into the benefits derived by using chromosomal microarray analysis and demonstrate the usefulness of array CGH as a first-tier clinical setting test in patients with intellectual disability.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Body Dysmorphic Disorders/diagnosis ; Body Dysmorphic Disorders/genetics ; Child ; Child, Preschool ; Chromosome Aberrations ; Comparative Genomic Hybridization/methods ; DNA Copy Number Variations ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Diagnosis, Differential ; Female ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Young Adult
Language	English
Publishing date	2014-07
Publishing country	Poland
Document type	Evaluation Studies ; Journal Article
ZDB-ID	2576573-5
ISSN	1428-345X
ISSN	1428-345X
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Journal of applied genetics

2013 Volume 55, Issue 1, Page(s) 125–144

Abstract: We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional ... ...

Abstract	We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Comparative Genomic Hybridization/methods ; DNA Copy Number Variations ; Developmental Disabilities/genetics ; Exons ; Female ; Gene Dosage ; Genome, Human/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Intellectual Disability/genetics ; Karyotyping ; Male ; Phenotype ; Poland ; Sequence Deletion
Language	English
Publishing date	2013-12-03
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-013-0181-x
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Article ; Online: Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wiszniewski, Wojciech / Gawlinski, Pawel / Gambin, Tomasz / Bekiesinska-Figatowska, Monika / Obersztyn, Ewa / Antczak-Marach, Dorota / Akdemir, Zeynep Hande Coban / Harel, Tamar / Karaca, Ender / Jurek, Marta / Sobecka, Katarzyna / Nowakowska, Beata / Kruk, Malgorzata / Terczynska, Iwona / Goszczanska-Ciuchta, Alicja / Rudzka-Dybala, Mariola / Jamroz, Ewa / Pyrkosz, Antoni / Jakubiuk-Tomaszuk, Anna /

Iwanowski, Piotr / Gieruszczak-Bialek, Dorota / Piotrowicz, Malgorzata / Sasiadek, Maria / Kochanowska, Iwona / Gurda, Barbara / Steinborn, Barbara / Dawidziuk, Mateusz / Castaneda, Jennifer / Wlasienko, Pawel / Bezniakow, Natalia / Jhangiani, Shalini N / Hoffman-Zacharska, Dorota / Bal, Jerzy / Szczepanik, Elzbieta / Boerwinkle, Eric / Gibbs, Richard A / Lupski, James R

European journal of human genetics : EJHG

2018 Volume 26, Issue 8, Page(s) 1121–1131

Abstract: Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic ... ...

Abstract	Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies. Variation affecting known MCDs-associated genes was found in 16/54 cases, including 11 patients with SNV, 2 patients with CNV, and 3 patients with both CNV and SNV, at distinct loci. Diagnostic pathogenic SNV and potentially damaging variants of unknown significance (VUS) were identified in two groups of seven individuals each. We demonstrated that de novo variants are important among patients with MCDs as they were identified in 10/16 individuals with a molecular diagnosis. Three patients showed changes in known MCDs genes and a clinical phenotype beyond the usual characteristics observed, i.e., phenotypic expansion, for a particular known disease gene clinical entity. We also discovered 2 likely candidate genes, CDH4, and ASTN1, with human and animal studies supporting their roles in brain development, and 5 potential candidate genes. Our findings emphasize genetic heterogeneity of MCDs disorders and postulate potential novel candidate genes involved in cerebral cortical development.
MeSH term(s)	Cadherins/genetics ; DNA Copy Number Variations ; Exome ; Female ; Genetic Heterogeneity ; Humans ; Male ; Malformations of Cortical Development/genetics ; Malformations of Cortical Development/pathology ; Nerve Tissue Proteins/genetics ; Polymorphism, Single Nucleotide ; Receptors, Cell Surface/genetics
Chemical Substances	ASTN1 protein, human ; Cadherins ; Nerve Tissue Proteins ; R-cadherin ; Receptors, Cell Surface
Language	English
Publishing date	2018-04-30
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; 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/s41431-018-0137-z
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Article: Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Journal of applied genetics. 2014 Feb., v. 55, no. 1

2014

Abstract	We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
Keywords	abnormal development ; comparative genomic hybridization ; etiology ; genes ; microarray technology ; patients
Language	English
Dates of publication	2014-02
Size	p. 125-144.
Publishing place	Springer-Verlag
Document type	Article
ZDB-ID	1235302-4
ISSN	2190-3883 ; 1234-1983
ISSN (online)	2190-3883
ISSN	1234-1983
DOI	10.1007/s13353-013-0181-x
Database	NAL-Catalogue (AGRICOLA)

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Article: Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Journal of applied genetics

Volume v. 55,, Issue no. 1

Abstract	We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
Keywords	etiology ; patients ; microarray technology ; genes ; comparative genomic hybridization ; abnormal development
Language	English
Document type	Article
ISSN	1234-1983
Database	AGRIS - International Information System for the Agricultural Sciences and Technology

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Article: Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Journal of applied genetics

Volume v. 55,, Issue no. 1

Abstract	We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
Keywords	etiology ; patients ; microarray technology ; genes ; comparative genomic hybridization ; abnormal development
Language	English
Document type	Article
ISSN	1234-1983
Database	AGRIS - International Information System for the Agricultural Sciences and Technology

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