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Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagno...

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Autores principales: Abumansour, Iman S., Al Sulmi, Eman, Chodirker, Bernard N., Hunt, Jennifer C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603861/
https://www.ncbi.nlm.nih.gov/pubmed/26495167
http://dx.doi.org/10.1055/s-0035-1549298
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author Abumansour, Iman S.
Al Sulmi, Eman
Chodirker, Bernard N.
Hunt, Jennifer C.
author_facet Abumansour, Iman S.
Al Sulmi, Eman
Chodirker, Bernard N.
Hunt, Jennifer C.
author_sort Abumansour, Iman S.
collection PubMed
description Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.
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spelling pubmed-46038612015-10-22 Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus Abumansour, Iman S. Al Sulmi, Eman Chodirker, Bernard N. Hunt, Jennifer C. AJP Rep Article Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families. Thieme Medical Publishers 2015-04-27 2015-10 /pmc/articles/PMC4603861/ /pubmed/26495167 http://dx.doi.org/10.1055/s-0035-1549298 Text en © Thieme Medical Publishers
spellingShingle Article
Abumansour, Iman S.
Al Sulmi, Eman
Chodirker, Bernard N.
Hunt, Jennifer C.
Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
title Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
title_full Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
title_fullStr Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
title_full_unstemmed Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
title_short Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
title_sort prenatal diagnosis of walker–warburg syndrome using single nucleotide polymorphism array: a clinical experience from three related palestinian families with congenital hydrocephalus
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603861/
https://www.ncbi.nlm.nih.gov/pubmed/26495167
http://dx.doi.org/10.1055/s-0035-1549298
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