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

作者：Chen Chih Ping^*; Lin Shuan Pei; Chern Schu Rern; Tsai Fuu Jen; Wu Pei Chen; Lee Chen Chi; Chen Yu Ting; Chen Wen Ling; Wang Wayseen

来源：European Journal of Medical Genetics, 2010, 53(5): 329-332.

DOI：10.1016/j.ejmg.2010.06.004

• Array-CGH
• 22q13 deletion syndrome
• Autism
• Epilepsy
• Atopic dermatitis
• Immune system
• SHANK3
• NCAPH2
• CYP2D6

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.

• 出版日期2010-10
• 单位中国医科大学