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Journal articles
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
Abstract : 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 small 22q11.2 deletion encompassing PRODH and the neighboring DGCR6 gene in three case-control studies, one comprising HPI patients (n=83), and the other two comprising autism spectrum disorder (ASD) patients (total of n=2800), analyzed with high-resolution microarrays. We found that the PRODH deletion is a strong risk factor for HPI (OR = 50.7; 95% CI = 7.5-2147) but not for ASD (p=0.4, OR= 0.6-3.3). This result indicates either that the suggested association between ASD and HPI is spurious and results from a bias leading to the preferential inclusion of ASD patients in HPI series, or that HPI is present in only a very small subset of ASD patients. In this latter case, a very large sample size would be required to detect an association between the PRODH deletion and ASD in a case-control study.
Cited literature [24 references]
https://www.hal.inserm.fr/inserm-01289348
Contributor : Catalina Betancur <>
Submitted on : Wednesday, March 16, 2016 - 3:33:16 PM
Last modification on : Thursday, December 10, 2020 - 3:43:31 AM
Contributor : Catalina Betancur <>
Submitted on : Wednesday, March 16, 2016 - 3:33:16 PM
Last modification on : Thursday, December 10, 2020 - 3:43:31 AM
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Richard PRODH AJMGB 2016.pdf
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