Abstract
To explore the genetic basis for a patient with autism. High-throughput sequencing was carried out to detect copy number variations in the patient. 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. Partial deletion of the NRXN1 gene may underlie the disease in this patient.
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