NovelSTAMBPmutation and additional findings in an Arabic family
| Autor: | Eissa Faqeih, Rasim Ozgur Rosti, Mohammad A. M. Saleh, Laila Bastaki, AbdulAli P. Zada, Joseph G. Gleeson, Kyongmi Um, Emily Spencer |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Microcephaly Vascular Malformations DNA Mutational Analysis Central nervous system medicine.disease_cause Consanguinity Genetics medicine Humans Point Mutation Abnormalities Multiple splice Child Gene Genetic Association Studies Genetics (clinical) Psychomotor learning Mutation Endosomal Sorting Complexes Required for Transport business.industry Syndrome Alopecia areata medicine.disease Arabs Capillaries Congenital hypothyroidism medicine.anatomical_structure Child Preschool business Ubiquitin Thiolesterase |
| Zdroj: | American Journal of Medical Genetics Part A. 167:805-809 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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