1. Analysis of NRXN1 gene deletion in an autistic patient
Shuxiang ZHOU ; Bingwen SONG ; Ni LIU ; Sainan TAN ; Yiqiong YANG ; Xiaomin ZHANG ; Hunjin LUO
Chinese Journal of Medical Genetics 2019;36(9):935-937
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.
2.Analysis of NRXN1 gene deletion in an autistic patient.
Shuxiang ZHOU ; Bingwen SONG ; Ni LIU ; Sainan TAN ; Yiqiong YANG ; Xiaomin ZHANG ; Hunjin LUO
Chinese Journal of Medical Genetics 2019;36(9):935-937
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.
Autistic Disorder
;
genetics
;
Cell Adhesion Molecules, Neuronal
;
genetics
;
DNA Copy Number Variations
;
Gene Deletion
;
Humans
;
Male
;
Nerve Tissue Proteins
;
genetics