Analysis of NRXN1 gene deletion in an autistic patient / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 935-937, 2019.
Article
in Zh
| WPRIM
| ID: wpr-776771
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Autistic Disorder
/
Cell Adhesion Molecules, Neuronal
/
Gene Deletion
/
DNA Copy Number Variations
/
Genetics
/
Nerve Tissue Proteins
Limits:
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article