Novel STAMBP Mutation and Additional Findings in an Arabic Family

作者：Faqeih Eissa A; Bastaki Laila; Rosti Rasim Ozgur; Spencer Emily G; Zada AbdulAli P; Saleh Mohammad A M; Um Kyongmi; Gleeson Joseph G^*

来源：American Journal of Medical Genetics, Part A, 2015, 167(4): 805-809.

DOI：10.1002/ajmg.a.36782

• MIC-CAP syndrome
• STAMBP gene
• capillary malformation
• congenital hypothyroidism
• alopecia areata

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.

• 出版日期2015-4