Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Journal article

Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. In 15 out of 16 families previously reported, the disease was caused by homozygosity for truncating mutations, and currently only a single missense mutation has been identified in a compound heterozygote. Here, we describe a further 8 indepe...

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Authors: Jenkins, D; Baynam, G; De Catte, L; Elcioglu, N; Gabbett, M

• Publication status: Published
• Journal: Human mutation
• Volume: 32
• Issue: 4
• Pages: E2069-E2078
• Publication date: 2011-04-01
• DOI: 10.1002/humu.21457
• EISSN: 1098-1004
• ISSN: 1059-7794
• Language: English
• Keywords: RNA Stability; Male; Base Sequence; Molecular Sequence Data; Abnormalities, Multiple; Humans; rab GTP-Binding Proteins; Acrocephalosyndactylia; Homozygote; Nervous System Malformations; Craniofacial Dysostosis; Genotype; Phenotype; Syndrome; Female; Mutation