ABSTRACT
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.
ABSTRACT
Objective:To study the association between set shifting in ADHD and NRXN1 gene.Methods:According to the diagnostic standard of the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition (DSM-Ⅳ).Totally 756 Han Chinese ADHD children and 133 Han Chinese unaffected children were involved in the analysis.Set shifting,including number connection time (NOTIM),number connection error times (NOERR),number and letter alternant connection time (LETIM),number and letter altemant error times (LEERR),and shifting time(each value was the difference between LETIM and NOTIM),was recorded by trail making test (TMT).Two SNPs (Single Nucleotide Polymorphisms) of NRXN1 gene,rs1592728 and rs4971652,were chose to detect genotype using Sequenom Mass ARRAY system by real time quantitative polymerase chain reaction.Linear regression analysis was applied to explore the influence of set shifting,then,stratified analysis was used to study the association between set shifting and rs1592728 as well as rs4971652 in ADHD cases and controls separately.Results:Linear regression analysis showed that there was a negative correlation between set shifting and month (β =0.42,P ＜0.001),IQ (β =0.34,P ＜ 0.001),group (β =0.08,P =0.004),GG genotype of rs4971652 (β =0.06,P =0.039).Among ADHD children,there was a negative relationship between set shifting and month (β =0.46,P ＜0.001),IQ (β =0.32,P ＜ 0.001),GG genotype of rs4971652 (β =0.07,P =0.018),a positive association was found between set shifting and ADHDSUB (β =0.06,P =0.033),set shifting damaged higher with ADHD-Ⅰ children than ADHD-C children.While,in controls,set shifting was in inverse relation with month (β =0.25,P =0.002) and IQ (β =0.40,P ＜ 0.001).Conclusion:It suggests that the association between shift in ADHD children and polymorphism of NRXN1 gene is existed,set shifting deficit less seriously in GG genotype.