Chromosomal Abnormalities in Patients With Autism Spectrum Disorders From Taiwan
Journal
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Journal Volume
162
Journal Volume
162
Journal Issue
7
Journal Issue
7
Pages
734-741
Start Page
734
End Page
741
ISSN
1552-485X
Date Issued
2013-10
Author(s)
HSIAO-MEI LIAO
JYE-SIUNG FANG
YING-CHENG SU
MIAO-CHUN CHOU
SHIH-KAI LIU
WEN-JIUN CHOU
YU-YU WU
CHIA-HSIANG CHEN
Abstract
Autism spectrum disorders (ASD) are childhood-onset neurodevelopmental disorders characterized by verbal communication impairments, social reciprocity deficits, and the presence of restricted interests and stereotyped behaviors. Genetic factors contribute to the incidence of ASD evidently. However, the genetic spectrum of ASD is highly heterogeneous. Chromosomal abnormalities contribute significantly to the genetic deficits of syndromic and non-syndromic ASD. In this study, we conducted karyotyping analysis in a sample of 500 patients (447 males, 53 females) with ASD from Taiwan, the largest cohort in Asia, to the best of our knowledge. We found three patients having sex chromosome aneuploidy, including two cases of 47, XXY and one case of 47, XYY. In addition, we detected a novel reciprocal chromosomal translocation between long arms of chromosomes 4 and 14, designated t(4;14)(q31.3;q24.1), in a patient with Asperger's disorder. This translocation was inherited from his unaffected father, suggesting it might not be pathogenic or it needs further hits to become pathogenic. In line with other studies, our study revealed that subjects with sex chromosomal aneuploidy are liable to neurodevelopmental disorders, including ASD, and conventional karyotyping analysis is still a useful tool in detecting chromosomal translocation in patients with ASD, given that array-based comparative genomic hybridization technology can provide better resolution in detecting copy number variations of genomic DNA.
SDGs
Type
journal article