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Novel STAMBP mutation and additional findings in an Arabic family
Author(s) -
Faqeih Eissa A.,
Bastaki Laila,
Rosti Rasim Ozgur,
Spencer Emily G.,
Zada AbdulAli P.,
Saleh Mohammad A. M.,
Um Kyongmi,
Gleeson Joseph G.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36782
Subject(s) - microcephaly , psychomotor retardation , mutation , biology , medicine , genetics , gene , pathology , alternative medicine
Microcephaly‐capillary malformation syndrome (MIC‐CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early‐onset seizures, profound psychomotor disability, and multiple cutaneous capillary lesions. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. It is distinctively caused by mutations in a newly characterized gene, STAMBP , encoding the deubiquitinating (DUB) isopeptidase that has a key role in cell surface receptor‐mediated endocytosis and sorting. Herein, we describe an Arab family of two siblings with classic features of MIC‐CAP syndrome that harbor a novel predicted splice mutation in STAMBP , which additionally display previously unreported findings of congenital hypothyroidism and alopecia areata. © 2015 Wiley Periodicals, Inc.