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Siblings rapidly lost their body fat in infancy due to rare, newly described gene mutation



In their first few months of life, two siblings rapidly lost most of their body fat. Now, doctors have found the cause: a DNA mutation never previously linked to their underlying disease.

According to a report of the cases, published July 12 in the journal Frontiers in Endocrinology, the siblings have a previously described condition called congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, after doctors who first described the disorder. The disease has several subtypes that are collectively thought to affect 1 in 10 million people worldwide, according to MedlinePlus, an information service from the U.S. National Library of Medicine. 

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