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Updated: Jan 19, 2026

Genome-wide Gene Deletions in Streptococcus sanguinis by High Throughput PCR
Published on: November 23, 2012
[Analysis of NRXN1 gene deletion in an autistic patient]
Shuxiang Zhou1, Bingwen Song, Ni Liu
1Department of Genetics and Birth Health, Women and Children's Health Care Hospital of Zhuzhou, Zhuzhou, Hunan 412000, China.guagua0229@126.com.
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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