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[Analysis of NRXN1 gene deletion in an autistic patient].
Zhonghua Yi Xue Yi Chuan Xue za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 2019 September 11
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.
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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