Article
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2016
Richard Anne Claire, Rovelet-Lecrux Anne, Delaby Elsa, Charbonnier Camille, Thiruvahindrapuram Bhooma, Hatchwell Eli, Eis Peggy S, Afenjar Alexandra, Gilbert Dussardier Brigitte, Scherer Stephen W, Betancur Catalina, Campion Dominique
Abstract excerpt
The proline dehydrogenase (PRODH) gene maps to 22q11.2 in the region deleted in the velo-cardio-facial syndrome (VCFS). A moderate to severe reduction (>50%) in PRODH activity resulting from recessive deletions and/or missense mutations has been shown to cause type 1 hyperprolinemia (HPI). Autistic features have been reported as a common clinical manifestation of HPI. Here we studied the frequency of a recurrent...
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