Mental retardation and psychosis in VCFS From the 22q11 deletion ...

More documents

Recommendations

Info

GENE DOSAGE VARIATION: DELETION OF 350 kbAT THE PRODH LOCUSUSP18DGCR6 PRODHLOC200301 DGS-A DGCR2PRODH-P DGCR6 LCENLCR22TEL234 kb16 kb1180 kbFrequency:1/250 in thegeneralpopulationDeletion of350 kbUSP18 DGCR2 PRODH-P DGCR6 LCENTEL
MOLECULAR BASIS OF TYPE IHYPERPROLINEMIAPhenotype : severe hyperprolinemia is associated with mentalretardation and epilepsyPlasma Proline : 800 µmol/LPlasma Proline : 1255 µmol/LL441P/L441PPlasma Proline : 2246 µmol/LPRODH Del/DelJacquet et al. 2003, Hum Mol Genet.
Page 1 and 2: !Mental retardation and psychosis i
Page 3 and 4: 14,5715,515,615,815,9616,0316,2616,
Page 5: MISSENSE MUTATIONS IN THE PRODH GEN
Page 9 and 10: CORRELATION BETWEEN HYPERPROLINEMIA
Page 11 and 12: VCFS SUBJECTS WITH SEVERE HYPERPROL
Page 13 and 14: SEVERE HYPERPROLINEMIA IS ASSOCIATE
Page 15 and 16: THE OPPOSITE STRATEGY: SEARCH FORPR
Page 17 and 18: TARGETED ANALYSIS28 candidate loci
Page 19 and 20: SUBJECTS 247 patients with mental r
Page 21 and 22: DISEASES ASSOCIATED CNVs: AUTISMID
Page 23 and 24: CONCLUSION• Type I hyperprolinemi

Mental retardation and psychosis in VCFS From the 22q11 deletion ...

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?