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.
Subject(s)
Humans , Male , Autistic Disorder , Genetics , Cell Adhesion Molecules, Neuronal , Genetics , DNA Copy Number Variations , Gene Deletion , Nerve Tissue Proteins , GeneticsABSTRACT
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.