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Puberty disorder gene is identified

AUGUSTA, Ga., Oct. 29 (UPI) -- U.S. scientists say they've identified a gene responsible for a variety of problems, including mental retardation, that arise during puberty.

Medical College of Georgia researchers discovered that when a gene called CHD7 mutates, it can produce a set of maladies such as hearing loss, heart defects, and cleft lip and palate.

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The researchers also determined CHD7 accounts for about 6 percent of two puberty disorders: idiopathic hypogonadotropic hypogonadism, or IHH; and Kallmann syndrome that, among other things, causes infertility.

In a study of 101 people with IHH and Kallmann syndrome, Dr. Lawrence Layman and colleagues found seven mutations of CHD7 that weren't present in nearly 200 healthy individuals.

"This suggests that (there) were mutations causing the disorder and we also showed that most of these mutations impaired the gene's function," Layman said.

The study's findings are detailed in The American Journal of Human Genetics.

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