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

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TREND FOR ASSOCIATION BETWEENHYPERPROLINEMIA AND PSYCHOSIS IN VCFSProlinemia >300µm/L(hyperprolinemia)Prolinemia < 300µm/L(normal values)Psychosis(n=33)Other patients(n=59)16 (48%)18 (31%)1741Chi-2, 1ddl = 2,93 p=0.08
SEVERE HYPERPROLINEMIA IS ASSOCIATED WITHMORE SEVERE MENTAL RETARDATIONHyperprolinemia > 600 µm/L(n=7)Prolinemia< 600 µm/L(n=85)QIG = 50,6 ± 7 QIG = 65,2 ± 14Significant difference: p=0.007Inverse correlation Prolinemia / IQ.r = -0.24, p = 0.02,Spearman’s test
Page 1 and 2: !Mental retardation and psychosis i
Page 3 and 4: 14,5715,515,615,815,9616,0316,2616,
Page 5 and 6: MISSENSE MUTATIONS IN THE PRODH GEN
Page 7 and 8: MOLECULAR BASIS OF TYPE IHYPERPROLI
Page 9 and 10: CORRELATION BETWEEN HYPERPROLINEMIA
Page 11: VCFS SUBJECTS WITH SEVERE HYPERPROL
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 ...

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