小头畸形-毛细血管畸形综合征：通过外显子组测序发现的携带纯合STAMBP突变的兄弟。
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
作者信息
Naseer Muhammad Imran, Sogaty Sameera, Rasool Mahmood, Chaudhary Adeel G, Abutalib Yousif Ahmed, Walker Susan, Marshall Christian R, Merico Daniele, Carter Melissa T, Scherer Stephen W, Al-Qahtani Mohammad H, Zarrei Mehdi
机构信息
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia.
出版信息
Am J Med Genet A. 2016 Nov;170(11):3018-3022. doi: 10.1002/ajmg.a.37845. Epub 2016 Aug 17.
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.
我们描述了来自一个有埃及血统的近亲家庭的两兄弟，他们患有小头畸形、明显的全面发育迟缓、癫痫、痉挛、先天性失明和多处皮肤毛细血管畸形。通过外显子组测序，我们在这两个兄弟中发现了STAMBP基因的一个纯合错义变异（p.K303R），该变异遗传自杂合子携带者父母。已知STAMBP基因突变会导致小头畸形 - 毛细血管畸形综合征（MIC - CAP），并且这个家族中的表型与该诊断一致。我们将这两位兄弟的发现与早期报道的患者进行了比较。© 2016威利期刊公司
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