LIVIVO - Search results -

Search results

Result 1 - 10 of total 52

Search options

Article: Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.

López-Rodríguez, Larissa / Svyryd, Yevgeniya / Benítez-Alonso, Edmar O / Rivero-García, Pamela / Luna-Muñoz, Leonora / Mutchinick, Osvaldo M

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

2022 Volume 74, Issue 6, Page(s) 328–339

Abstract: Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by : Objectives: The objective of the study was to study non-hematological phenotypic findings that suggest a clinical diagnosis of ... ...

Abstract	Background: Severe congenital neutropenia type 4 (SCN4) is a rare autosomal recessive granulopoiesis disorder caused by Objectives: The objective of the study was to study non-hematological phenotypic findings that suggest a clinical diagnosis of SCN4. Methods: We examined medical records of patients diagnosed with neutropenia from January 2000 to December 2020, selecting cases with non-hematologic manifestations for phenotypic description and Results: We found 11 cases with non-hematologic features: congenital heart defects in 8, IVSV in 6, inflammatory bowel disease in 4, urogenital defects in 4, and similar facial appearance. In addition, Sanger sequencing confirmed 3 homozygous cases for the c.210delC variant, a compound heterozygous harboring this variant, and a c.199_218+1 deletion. Conclusions: Our findings of the c.210delC variant in very close geographical settings, to date, have only been reported among Mexicans, and a mutual uncommon surname in two families strongly supports a founder effect for the variant in the studied population. Furthermore, the described non-hematologic symptoms in patients with severe primary neutropenia should be explored, confirming SCN4 by investigating
MeSH term(s)	Humans ; Glucose-6-Phosphatase/genetics ; Heart Defects, Congenital/genetics ; Inflammatory Bowel Diseases/genetics ; Mutation ; Neutropenia/epidemiology ; Neutropenia/genetics ; Neutropenia/congenital ; Rare Diseases
Chemical Substances	G6PC3 protein, human (EC 3.1.3.9.) ; Glucose-6-Phosphatase (EC 3.1.3.9)
Language	English
Publishing date	2022-12-22
Publishing country	Mexico
Document type	Journal Article
ZDB-ID	138348-6
ISSN	0034-8376
ISSN	0034-8376
DOI	10.24875/RIC.22000234
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 288: 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

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 ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways.

Ortiz-Cruz, Gabriela / Aguayo-Gómez, Adolfo / Luna-Muñoz, Leonora / Muñoz-Téllez, Luis A / Mutchinick, Osvaldo M

Birth defects research

2021 Volume 113, Issue 4, Page(s) 371–381

Abstract: Background: Myelomeningocele (MMC) is the most severe and frequent type of spina bifida. Its etiology remains poorly understood. The Hedgehog (Hh), Wnt, and planar cell polarity (PCP) signaling pathways are essential for normal tube closure, needing a ... ...

Abstract	Background: Myelomeningocele (MMC) is the most severe and frequent type of spina bifida. Its etiology remains poorly understood. The Hedgehog (Hh), Wnt, and planar cell polarity (PCP) signaling pathways are essential for normal tube closure, needing a structural-functional cilium for its adequate function. The present study aimed to investigate the impact of different gene variants (GV) from those pathways on MMC genotype-subphenotype correlations. Methods: The study comprised 500 MMC trios and 500 controls, from 16 Telethon centers of 16 Mexican states. Thirty-four GVs of 29 genes from cilia, Hh, PCP, and Wnt pathways, were analyzed, by an Illumina on design microarray. The total sample (T-MMC) was stratified in High-MMC (H-MMC) when thoracic and Low-MMC (L-MMC) when lumbar-sacral vertebrae affected. STATA/SE-12.1 and PLINK software were used for allelic association, TDT, and gene-gene interaction (GGI) analyses, considering p value <.01 as statistically significant differences (SSD). Results: Association analysis showed SSD for COBL-rs10230120, DVL2-rs2074216, PLCB4-rs6077510 GVs in T-MMC and L-MMC, and VANGL2-rs120886448 in T-MMC and H-MMC, and INVS-rs7024375 exclusively in L-MMC. TDT assay showed SSD preferential transmissions of C2CD3-rs826058 in H-MMC, and LRP5-rs3736228, and BBS2-rs1373 in L-MMC. Statistically significant GGI was observed in four in T-MMC, four completely different in L-MMC, and one in H-MMC. Interestingly, no one repeated in subphenotypes. Conclusions: Our results support an association of GVs in Hh, Wnt, PCP, and cilia pathways, with MMC occurrence location, although further validation is needed. Furthermore, present results show a distinctive panel of gene-variants in H-MMC and LMMC subphenotypes, suggesting a feasible genotype-phenotype correlation.
MeSH term(s)	Cilia/genetics ; Genetic Association Studies ; Hedgehog Proteins ; Humans ; Meningomyelocele/genetics ; Microtubule-Associated Proteins ; Wnt Signaling Pathway/genetics
Chemical Substances	C2cd3 protein, human ; Hedgehog Proteins ; Microtubule-Associated Proteins
Language	English
Publishing date	2021-01-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.1872
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 749: 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: OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

Arteaga-Vázquez, Jazmín / Luna-Muñoz, Leonora / Morales-Suárez, Juan José / Mutchinick, Osvaldo M

Birth defects research

2019 Volume 111, Issue 11, Page(s) 666–671

Abstract: OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of ... ...

Abstract	OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific associated risk factors uncertain. Objectives: This study aimed to determine the prevalence, clinical spectrum, possible early pregnancy exposures, and demographic characteristics as potentially associated risk factors in a sample of Mexican cases. Methods: We conducted a multihospital based case-control study on 12 cases with the OEIS complex identified in 1,195,020 LB born from January 1978 to December 2015. All comparisons performed were matching 1:3 the relation of cases and controls, respectively, considering the p-value of ≤.05 as statistically significant. Results: The prevalence of OEIS was 1.004/100,000 (1/99,585) LB. The frequency of bladder/cloacal exstrophy was 75 and 25%, respectively, omphalocele was 83.3%, and imperforate anus and spinal defects, 75.0% each. Two pairs of twins discordant for the defect exhibited the severest OEIS phenotype. Except for the higher frequency of maternal first pregnancy trimester influenza infection, early perinatal mortality and a twining trend association, none other variable differed significantly. Discussion: The prevalence of OEIS in our sample is within the highest reported worldwide. First-trimester pregnancy maternal influenza infection and twining emerge as associated risk factors for OEIS. Although twin zygosity was not defined, the observed severest phenotypes in twins endorse the hypothesis that OEIS and monozygotic twinning are features of disturbances on early blastogenesis.
MeSH term(s)	Adult ; Anus, Imperforate/complications ; Anus, Imperforate/epidemiology ; Anus, Imperforate/mortality ; Case-Control Studies ; Female ; Hernia, Umbilical/complications ; Hernia, Umbilical/epidemiology ; Hernia, Umbilical/mortality ; Humans ; Infant, Newborn ; Male ; Mexico/epidemiology ; Pregnancy ; Prevalence ; Scoliosis/complications ; Scoliosis/epidemiology ; Scoliosis/mortality ; Urogenital Abnormalities/complications ; Urogenital Abnormalities/epidemiology ; Urogenital Abnormalities/mortality
Language	English
Publishing date	2019-05-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.1512
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 749: 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: Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

Ortiz-Cruz, Gabriela / Luna-Muñoz, Leonora / Arteaga-Vázquez, Jazmín / Mutchinick, Osvaldo M

American journal of medical genetics. Part A

2019 Volume 179, Issue 8, Page(s) 1432–1441

Abstract: Isolated postaxial polydactyly (I-PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as 6 ... ...

Abstract	Isolated postaxial polydactyly (I-PAP), as a single defect, is a frequent malformation, characterized by an extra digit placed on the ulnar or fibular side of the limbs. Worldwide prevalence varies from as high as 225/10,000 in Nigerians to so low as 6.08/10,000 in Argentinians. Genetic-ethnic background significantly affects worldwide prevalence and type of I-PAP. Herein we describe the epidemiological characteristics of I-PAP in 697 newborns, 383 males and 314 females identified in 1,178,993 examined live births from a multicenter case-control hospital-based population study, the Mexican program of Registry and Epidemiological Surveillance of Congenital Malformations (RYVEMCE). The main characteristics analyzed included total I-PAP, stratified in Types A and B, defined as complete or incomplete extra-digit formation, respectively, sex prevalence, affected limb, laterality, parity, prematurity, delivery-type, twinning, consanguinity, and parental age. Males (6.35/10,000) are significantly more frequently affected than females (5.45/10,000), hands more than feet, left more than right limbs, and Type B (74.50%) more than A (25.50%). Prematurity and forceps use were significantly more frequent in cases than controls. An evident decreasing time-trend prevalence was present. Similar findings with other studies were males, upper and left limbs more frequently affected. Findings that were not previously reported include prematurity, forceps use, a significant decreasing time trend and an inverse ethnic prevalence for Types A (75%) and B (25%) in the Mayan population in contrast to other worldwide ethnic groups.
MeSH term(s)	Age Factors ; Case-Control Studies ; Consanguinity ; Ethnic Groups ; Female ; Fingers/abnormalities ; Fingers/pathology ; Foot/pathology ; Hand/pathology ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Mexico/epidemiology ; Parity ; Polydactyly/classification ; Polydactyly/epidemiology ; Polydactyly/genetics ; Polydactyly/pathology ; Pregnancy ; Prevalence ; Registries ; Sex Factors ; Toes/abnormalities ; Toes/pathology ; Twins
Language	English
Publishing date	2019-05-15
Publishing country	United States
Document type	Journal Article ; Multicenter Study
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.61193
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

Order via subito

Details ▾
- Full text online
- Order with fees

Article: Telomeres Length Variations in a Rheumatoid Arthritis Patients Cohort at Early Disease Onset and after Follow-Up.

Svyryd, Yevgeniya / Pascual-Ramos, Virginia / Contreras-Yañez, Irazú / Muñoz-Tellez, Luís A / Luna-Muñoz, Leonora / López-Hernández, María A / Aguayo-Gómez, Adolfo / Mutchinick, Osvaldo M

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

2022 Volume 74, Issue 4, Page(s) 202–211

Abstract: Background: Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic synovial joint inflammation, progressive disability, premature immune aging, and telomere length (TL) shortening.: Objectives: The objective of the study was to ... ...

Abstract	Background: Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic synovial joint inflammation, progressive disability, premature immune aging, and telomere length (TL) shortening. Objectives: The objective of the study was to study TL changes in patients at early disease onset and after follow-up. Methods: Relative leukocyte TL (rLTL) was measured by quantitative polymerase chain reaction (qPCR) in 88 at-admission patients (AAP) with < 1 year of symptoms onset, self-compared after follow-up, and a reference group of sex- and age-matched healthy individuals. Correlations between rLTL percentage change after variable disease exposure time (DET) and clinical laboratory disease activity markers and treatments were assessed. Non-parametrical statistics were applied, considering < 0.05 p-value significant. Results: The median (p25, p75) rLTL was lower in patients after DET (0.61, 0.49-0.70) than in AAP (0.64, 0.50-0.77), p = 0.017. Furthermore, telomeres at early stages of RA were shorter than in the reference group (0.77, 0.59-0.92; p = 0.003). Conclusions: At follow-up, RA patients showed significantly shorter rLTL than AAP, particularly in those AAP with longer telomeres, disregarding disease activity and treatments, denoting an rLTL shortening effect influenced by age, DET, and native rLTL.
MeSH term(s)	Arthritis, Rheumatoid/genetics ; DEET ; Follow-Up Studies ; Humans ; Telomere/genetics ; Telomere Shortening
Chemical Substances	DEET (134-62-3)
Language	English
Publishing date	2022-09-07
Publishing country	Mexico
Document type	Journal Article
ZDB-ID	138348-6
ISSN	0034-8376
ISSN	0034-8376
DOI	10.24875/RIC.22000048
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 288: 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: A Novel

Benítez, Edmar O / Morales, Juan J / Muñoz, Luis A / Hübner, Christian A / Mutchinick, Osvaldo M

Molecular syndromology

2018 Volume 9, Issue 2, Page(s) 110–114

Abstract: The alacrima, achalasia, and mental retardation syndrome (AAMR) is a newly described autosomal recessive disorder characterized by the onset of these 3 main features at birth or in early infancy. At present, only 16 cases have been reported. Recently, it ...

Abstract	The alacrima, achalasia, and mental retardation syndrome (AAMR) is a newly described autosomal recessive disorder characterized by the onset of these 3 main features at birth or in early infancy. At present, only 16 cases have been reported. Recently, it was shown that AAMR is due to mutations in the guanosine diphosphate (GDP)-mannose pyrophosphorylase A (
Language	English
Publishing date	2018-01-18
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000485908
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

Order via subito

Details ▾
- Full text online
- Order with fees

Article: La Medicina en un contexto genético y molecular.

Mutchinick, Osvaldo M

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion

2003 Volume 55, Issue 2, Page(s) 186–190

Title translation	Medicine in a genetic and molecular context.
MeSH term(s)	Chromosome Mapping ; Chromosomes, Human/genetics ; Forecasting ; Gene Expression Profiling ; Genetic Diseases, Inborn/classification ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/prevention & control ; Genetic Predisposition to Disease ; Genetic Variation ; Genetics, Medical/trends ; Humans ; Mexico/epidemiology ; Molecular Biology ; Morbidity
Language	Spanish
Publishing date	2003-03
Publishing country	Mexico
Document type	Journal Article ; Review
ZDB-ID	138348-6
ISSN	0034-8376
ISSN	0034-8376
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 288: 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: A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974-2014.

Mc Goldrick, Niall / Revie, Gavin / Groisman, Boris / Hurtado-Villa, Paula / Sipek, Antonin / Khoshnood, Babak / Rissmann, Anke / Dastgiri, Saeed / Landau, Danielle / Tagliabue, Giovanna / Pierini, Anna / Gatt, Miriam / Mutchinick, Osvaldo M / Martínez, Laura / de Walle, Hermein E K / Szabova, Elena / Lopez Camelo, Jorge / Källén, Karin / Morgan, Margery /

Wertelecki, Wladimir / Nance, Amy / Stallings, Erin B / Nembhard, Wendy N / Mossey, Peter

Birth defects research

2023 Volume 115, Issue 10, Page(s) 980–997

Abstract: Background: Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and the lips. This study estimated the prevalence and mortality of CLP using surveillance data collected from birth defect registries around the ... ...

Abstract	Background: Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and the lips. This study estimated the prevalence and mortality of CLP using surveillance data collected from birth defect registries around the world. Methods: Data from 22 population- and hospital-based surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) in 18 countries on live births (LB), stillbirths (SB), and elective terminations of pregnancy for fetal anomaly (ETOPFA) for CLP from 1974 to 2014 were analyzed. Prevalence and survival (survival for LB only) estimates were calculated for total and subclassifications of CLP and by pregnancy outcome. Results: The pooled prevalence of total CLP cases was 6.4 CLP per 10,000 births. The prevalence of CLP and all of the pregnancy outcomes varied across programs. Higher ETOPFA rates were recorded in most European programs compared to programs in other continents. In programs reporting low ETOPFA rates or where there was no ascertainment of ETOPFA, the rate of CLP among LB and SB was higher compared to those where ETOPFA rates were ascertained. Overall survival for total CLP was 91%. For isolated CLP, the survival was 97.7%. CLP associated with multiple congenital anomalies had an overall survival of 77.1%, and for CLP associated with genetic/chromosomal syndromes, overall survival was 40.9%. Conclusions: Total CLP prevalence reported in this study is lower than estimates from prior studies, with variation by pregnancy outcomes between programs. Survival was lower when CLP was associated with other congenital anomalies or syndromes compared to isolated CLP.
MeSH term(s)	Female ; Pregnancy ; Humans ; Cleft Palate/epidemiology ; Cleft Lip/epidemiology ; Prevalence ; Syndrome ; Pregnancy Outcome ; Stillbirth/epidemiology
Language	English
Publishing date	2023-04-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.2176
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 749: 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: Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

Feldkamp, Marcia L / Canfield, Mark A / Krikov, Sergey / Prieto-Merino, David / Šípek, Antonin / LeLong, Nathalie / Amar, Emmanuelle / Rissmann, Anke / Csaky-Szunyogh, Melinda / Tagliabue, Giovanna / Pierini, Anna / Gatt, Miriam / Bergman, Jorieke E H / Szabova, Elena / Bermejo-Sánchez, Eva / Tucker, David / Dastgiri, Saeed / Bidondo, María Paz / Canessa, Aurora /

Zarante, Ignacio / Hurtado-Villa, Paula / Martinez, Laura / Mutchinick, Osvaldo M / Camelo, Jorge Lopez / Benavides-Lara, Adriana / Thomas, Mary Ann / Liu, Shiliang / Nembhard, Wendy N / Gray, Elizabeth B / Nance, Amy E / Mastroiacovo, Pierpaolo / Botto, Lorenzo D

Birth defects research

2024 Volume 116, Issue 2, Page(s) e2306

Abstract: Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth ... ...

Abstract	Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population. Methods: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe Results: Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European Conclusions: Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.
MeSH term(s)	Pregnancy ; Infant, Newborn ; Female ; Humans ; Gastroschisis/epidemiology ; Prevalence ; Stillbirth ; Maternal Age ; Hernia, Umbilical/epidemiology ; Limb Deformities, Congenital
Language	English
Publishing date	2024-02-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.2306
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 749: 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: A Novel ; Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability

Benítez, Edmar O. / Morales, Juan J. / Muñoz, Luis A. / Hübner, Christian A. / Mutchinick, Osvaldo M.

Molecular Syndromology

2018 Volume 9, Issue 2, Page(s) 110–114

Institution	Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Mexico City, Mexico Institute of Human Genetics, Jena University Hospital, Jena, Germany
Abstract	The alacrima, achalasia, and mental retardation syndrome (AAMR) is a newly described autosomal recessive disorder characterized by the onset of these 3 main features at birth or in early infancy. At present, only 16 cases have been reported. Recently, it was shown that AAMR is due to mutations in the guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA) gene. These mutations induce a significant GDP-mannose overload, which may affect protein glycosylation. Herein, for the first time, we describe 2 adult sisters with AAMR with a previously not reported deleterious homozygous missense mutation c.1118G>C (p.Arg373Pro) in the GMPPA gene, born to healthy consanguineous heterozygous parents from an ancient endogamous population. The main symptoms in both sisters started soon after birth with achalasia and feeding difficulties, requiring surgical treatment. Both sisters showed alacrima identified during the first months of life, delayed psychomotor development, speech delay, facial dysmorphism, limb defects, short stature, and moderate intellectual disability. Alacrima and feeding difficulties due to achalasia during the neonatal period or first months of life, in the absence of adrenal cortical insufficiency, should spur to investigate AAMR by sequencing the GMPPA gene.
Keywords	AAMR syndrome ; <italic>GMPPA</italic> ; Novel mutation
Language	English
Publishing date	2018-01-18
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Short Report
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000485908
Database	Karger publisher's database

Full text online

Accessible to users with ZB MED library card

Order via subito

Details ▾
- Full text online
- Order with fees

To top

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

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

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

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

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Order via subito