Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus
Abstract 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 rep...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2015-04-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1549298 |
| _version_ | 1818033776577478656 |
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| author | Iman S. Abumansour Eman Al Sulmi Bernard N. Chodirker Jennifer C. Hunt |
| author_facet | Iman S. Abumansour Eman Al Sulmi Bernard N. Chodirker Jennifer C. Hunt |
| author_sort | Iman S. Abumansour |
| collection | DOAJ |
| description | Abstract
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. |
| first_indexed | 2024-12-10T06:28:39Z |
| format | Article |
| id | doaj.art-d85b996c59244ce6b77c0b556356d96a |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-12-10T06:28:39Z |
| publishDate | 2015-04-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-d85b996c59244ce6b77c0b556356d96a2022-12-22T01:59:09ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052015-04-010502e116e12010.1055/s-0035-1549298Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital HydrocephalusIman S. Abumansour0Eman Al Sulmi1Bernard N. Chodirker2Jennifer C. Hunt3Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, CanadaSection of Maternal Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, CanadaDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, CanadaSection of Maternal Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Manitoba, Winnipeg, Manitoba, CanadaAbstract 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1549298walker–warburg syndromecongenital hydrocephalusprenatal snp arraysyndromic hydrocephalus |
| spellingShingle | Iman S. Abumansour Eman Al Sulmi Bernard N. Chodirker Jennifer C. Hunt Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus American Journal of Perinatology Reports walker–warburg syndrome congenital hydrocephalus prenatal snp array syndromic 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 | walker–warburg syndrome congenital hydrocephalus prenatal snp array syndromic hydrocephalus |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1549298 |
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