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Article

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Clinical genetics - 1 Oct 2017

Fontana P, Grasso M, Acquaviva F, Gennaro E, Galli M L, Falco M, Scarano F, Scarano G, Lonardo F

Abstract excerpt

Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion...

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Identifiers

PMID: 28266014
DOI: 10.1111/cge.13005

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