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.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.09.020 | DOI Listing |
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