Medical Genetics

Findings from University Hospital Broaden Understanding of Medical Genetics

Published in Women's Health Weekly, September 22nd, 2011

2011 SEP 22 -- According to the authors of recent research from Oviedo, Spain, "Sotos syndrome is a well-described multiple anomaly syndrome characterized by overgrowth, distinctive craniofacial appearance, and variable learning disabilities. The diagnosis of Sotos syndrome relied solely on these clinical criteria until haploin-sufficiency of the NSD1 gene was identified as causative."

"We describe a 63-year-old woman with classic features and a pathogenic NSD1 mutation, who we believe to be the oldest reported person with Sotos syndrome. She is notable for the diagnosis of Sotos syndrome late in life, mild cognitive limitation, and chronic kidney disease...

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Source: Women's Health Weekly (2011-09-22)

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