UCSF researchers identify mutations in gene

Last fall, researchers at UC San Francisco announced that they had identified an elusive gene critical for vitamin D metabolism. Now they have identified mutations in that gene, paving the way for genetic diagnosis of a hereditary form of childhood rickets.

Further analysis of the gene, say the researchers, could lead to an understanding of other vitamin D deficiency disorders, as well. The finding, presented at the Pediatric Academic Societies' annual meeting here today (May 2), will even allow for prenatal diagnosis of the metabolic disorder, known as vitamin D-dependent rickets. It will also allow for genetic testing of adults to determine if they carry a latent form of the genetic mutation that could be passed on to their offspring.

Identifying the genetic mutations that cause hereditary vitamin D-dependent rickets is likely to increase the number of diagnoses made of the condition, which will allow for earlier treatment, said Walter Miller, MD, UCSF professor of pediatrics and senior author of the study.

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