Analysis of NRXN1 gene deletion in an autistic patient.
10.3760/cma.j.issn.1003-9406.2019.09.020
- Author:
Shuxiang ZHOU
1
;
Bingwen SONG
;
Ni LIU
;
Sainan TAN
;
Yiqiong YANG
;
Xiaomin ZHANG
;
Hunjin LUO
Author Information
1. Department of Genetics and Birth Health, Women and Children's Health Care Hospital of Zhuzhou, Zhuzhou, Hunan 412000, China.guagua0229@126.com.
- Publication Type:Journal Article
- MeSH:
Autistic Disorder;
genetics;
Cell Adhesion Molecules, Neuronal;
genetics;
DNA Copy Number Variations;
Gene Deletion;
Humans;
Male;
Nerve Tissue Proteins;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(9):935-937
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient with autism.
METHODS:High-throughput sequencing was carried out to detect copy number variations in the patient.
RESULTS:DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother.
CONCLUSION:Partial deletion of the NRXN1 gene may underlie the disease in this patient.
