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Article

Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.

American journal of medical genetics. Part A - 1 Nov 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 27531570
DOI: 10.1002/ajmg.a.37845

Genes

STAMBP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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