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The etiology of acquired partial lipodystrophy (APL, also called "Barraquer-Simons syndrome") is unknown. In a research study described in The American Journal of Human Genetics, the authors sequenced LMNB2 as a candidate gene in nine white patients with APL; in four patients, they found three new rare mutations in LMNB2. These novel heterozygous mutations are the first reported for LMNB2, are the first reported among patients with APL, and indicate how sequencing of a reannotated candidate gene can reveal new disease-associated mutations.
Contact:
Dr. Robert A. Hegele, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, Canada N6A 5K8. E-mail: hegele@robarts.caFREE FULL TEXT available online. (C) American Journal of Human Genetics. Posted by: Tressie Dalaya
Message posted by: Trevor M. D'Souza
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