title: Novel STAMBP mutation and additional findings in an Arabic family.
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.
authors.affiliation: Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia.
authors.forename: Eissa A
authors.initials: EA
authors.lastname: Faqeih
authors.forename: Laila
authors.initials: L
authors.lastname: Bastaki
authors.forename: Rasim Ozgur
authors.initials: RO
authors.lastname: Rosti
authors.forename: Emily G
authors.initials: EG
authors.lastname: Spencer
authors.forename: AbdulAli P
authors.initials: AP
authors.lastname: Zada
authors.forename: Mohammad A M
authors.initials: MA
authors.lastname: Saleh
authors.forename: Kyongmi
authors.initials: K
authors.lastname: Um
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Gleeson
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D018912:Arabs; D002196:Capillaries / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D013577:Syndrome; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D054079:Vascular Malformations / Q000175:diagnosis*
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; C486696:STAMBP protein, human; D043222:Ubiquitin Thiolesterase
keywords: MIC-CAP syndrome; STAMBP gene; alopecia areata; capillary malformation; congenital hypothyroidism