Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Journal article

17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning disability, dysmorphic features and variable additional features. These data identify RNF13...

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Authors: Douglas, J; Cilliers, D; Coleman, K; Tatton-Brown, K; Barker, K

• Journal: Nature genetics
• Volume: 39
• Issue: 8
• Pages: 963-965
• Publication date: 2007-08-01
• DOI: 10.1038/ng2083
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Child; Adult; Genes, Neurofibromatosis 1; Carrier Proteins; Infant; Female; Childhood Overgrowth Collaboration; Neurofibromatosis 1; Humans; Child, Preschool; Male; Mutation