Novel STAMBP mutation and additional findings in an Arabic family

Am J Med Genet A. 2015 Apr;167A(4):805-9. doi: 10.1002/ajmg.a.36782. Epub 2015 Feb 18.

Abstract

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.

Keywords: MIC-CAP syndrome; STAMBP gene; alopecia areata; capillary malformation; congenital hypothyroidism.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Arabs
  • Capillaries / abnormalities*
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Endosomal Sorting Complexes Required for Transport / genetics*
  • Genetic Association Studies
  • Humans
  • Male
  • Microcephaly / diagnosis*
  • Microcephaly / genetics
  • Point Mutation
  • Syndrome
  • Ubiquitin Thiolesterase / genetics*
  • Vascular Malformations / diagnosis*

Substances

  • Endosomal Sorting Complexes Required for Transport
  • STAMBP protein, human
  • Ubiquitin Thiolesterase

Supplementary concepts

  • Capillary Malformations, Congenital, 1