Journal
NATURE GENETICS
Volume 39, Issue 8, Pages 963-965Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng2083
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Funding
- Medical Research Council [G0400188] Funding Source: researchfish
- MRC [G0400188] Funding Source: UKRI
- Medical Research Council [G0400188] Funding Source: Medline
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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.
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