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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 RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases.

Original publication

DOI

10.1038/ng2083

Type

Journal article

Journal

Nat Genet

Publication Date

08/2007

Volume

39

Pages

963 - 965

Keywords

Adult, Carrier Proteins, Child, Child, Preschool, Female, Genes, Neurofibromatosis 1, Humans, Infant, Male, Mutation, Neurofibromatosis 1, Ubiquitin-Protein Ligases