RESUMO
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.
Assuntos
Humanos , Masculino , Transtorno Autístico , Genética , Moléculas de Adesão Celular Neuronais , Genética , Variações do Número de Cópias de DNA , Deleção de Genes , Proteínas do Tecido Nervoso , GenéticaRESUMO
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.