Analysis of NRXN1 gene deletion in an autistic patient
10.3760/cma.j.issn.1003-9406.2019.09.020
- VernacularTitle: 一例自闭症患者NRXN1基因缺失的分析
- 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
- Publication Type:Clinical Trail
- Keywords:
Autism;
NRXN1 gene;
Deletion;
Copy number variation
- 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.
