Document Details

Document Type : Article In Journal 
Document Title :
Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
Microcephaly‐capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
 
Document Language : English 
Abstract : We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary malformation syndrome (MIC-CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients.  2016 Wiley Periodicals, Inc. 
ISSN : 3018-3022 
Journal Name : American Journal of Medical Genetics Part A 
Volume : 170 
Issue Number : 11 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Thursday, July 20, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Muhammad Imran NaseerNaseer, Muhammad ImranResearcherDoctorate 
Sameera SogatySogaty, Sameera ResearcherDoctorate 
Mahmood RasoolRasool, Mahmood ResearcherDoctorate 
Adeel G. ChaudharyChaudhary, Adeel G.ResearcherDoctorate 
Yousif Ahmed AbutalibAbutalib, Yousif AhmedResearcherDoctorate 
Susan WalkerWalker, Susan ResearcherDoctorate 
Christian R. MarshallMarshall, Christian R.ResearcherDoctorate 
Daniele MericoMerico, Daniele ResearcherDoctorate 
Melissa T. CarterCarter, Melissa T.ResearcherDoctorate 
Stephen W. SchererScherer, Stephen W.ResearcherDoctorate 
Mohammad H. Al-QahtaniAl-Qahtani, Mohammad H.ResearcherDoctorate 
Mehdi ZarreiZarrei, Mehdi ResearcherDoctorate 

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