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

conceptual illustration shows close up of a DNA molecule made of blue component pieces; one base pair within the DNA is highlighted in pink, to represent a 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.