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

Abstract:

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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Publisher copy:
10.1038/ng2083

Authors


Douglas, J More by this author
Cilliers, D More by this author
Coleman, K More by this author
Tatton-Brown, K More by this author
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Journal:
Nature genetics
Volume:
39
Issue:
8
Pages:
963-965
Publication date:
2007-08-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:86b7f90b-7971-4439-a5f2-e5fab173e54a
Source identifiers:
253566
Local pid:
pubs:253566

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