A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings.
We report a 5-year-old boy with mental retardation, autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings, carrying a 7.9 Mb de novo deletion of chromosome 22q13.2→qter. This region contains the SHANK3, NCAPH2 and CYP2D6 genes which are associated with T-cell immune response. The present case provides evidence that 22q13 deletion syndrome may be associated with immune system dysfunction in addition to neuropsychiatric disorders.
Chen
Chih-Ping
CP
Lin
Shuan-Pei
SP
Chern
Schu-Rern
SR
Tsai
Fuu-Jen
FJ
Wu
Pei-Chen
PC
Lee
Chen-Chi
CC
Chen
Yu-Ting
YT
Chen
Wen-Ling
WL
Wang
Wayseen
W
D000015:Abnormalities, Multiple / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D018797:Cell Cycle Proteins / Q000235:genetics / Q000378:metabolism; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics / Q000378:metabolism; D003876:Dermatitis, Atopic / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D013577:Syndrome
D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C109974:NCAPH protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C492357:SHANK3 protein, human; D019389:Cytochrome P-450 CYP2D6