Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
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- 作者：Muhammad Imran Naseer ; Sameera Sogaty ; Mahmood Rasool ; Adeel G. Chaudhary ; Yousif Ahmed Abutalib ; Susan Walker ; Christian R. Marshall ; Daniele Merico ; Melissa T. Carter ; Stephen W. Scherer ; Mohammad H. Al-Qahtani and Mehdi Zarrei
- 刊名：American Journal of Medical Genetics Part A
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：170
- 期：11
- 页码：3018-3022
- 全文大小：3135K
- ISSN：1552-4833
文摘
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.