Microcephaly-Capillary Malformation Syndrome: Brothers with a Homozygous STAMBP Mutation, Uncovered by Exome Sequencing

被引：17

作者：

Naseer, Muhammad Imran ^{[1
]}

Sogaty, Sameera ^{[2
]}

Rasool, Mahmood ^{[1
]}

Chaudhary, Adeel G. ^{[1
]}

Abutalib, Yousif Ahmed ^{[3
]}

Walker, Susan ^{[4
]}

Marshall, Christian R. ^{[4
]}

Merico, Daniele ^{[4
]}

Carter, Melissa T. ^{[5
]}

Scherer, Stephen W. ^{[1
,4
,6
,7
]}

Al-Qahtani, Mohammad H. ^{[1
]}

Zarrei, Mehdi ^{[4
]}

机构：

[1] King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia

[2] King Fahad Gen Hosp, Dept Med Genet, Jeddah, Saudi Arabia

[3] Matern & Children Hosp, Jeddah, Saudi Arabia

[4] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada

[5] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada

[6] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada

[7] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2016年 / 170卷 / 11期

基金：

加拿大创新基金会; 加拿大健康研究院;

关键词：

microcephaly-capillary malformation syndrome; MIC-CAP; STAMBP; exome sequencing;

D O I：

10.1002/ajmg.a.37845

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2016 Wiley Periodicals, Inc.

引用

页码：3018 / 3022

页数：5

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