Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the clinical and genetic characteristics of a Chinese family with benign familial convulsions (BFNC).</p><p><b>METHODS</b>The clinical data of this family was analyzed. The blood samples were collected from 13 members of this family. By four microsatellite markers which are located in the gene loci of both K+ channel KCNQ2 and KCNQ3, the linkage analysis was performed in the family. With DNA direct sequencing and restriction endonuclease cutting analysis, the mutation analysis of KCNQ3 gene was made for the proband, other 12 family members and 76 unrelated normal individuals.</p><p><b>RESULTS</b>There were 7 patients with BFNC observed in the three generation of family. The BFNC seizures of all patients disappeared during one month and no recurrence of seizures was found. The linkage analysis suggested the disease gene linked to KCNQ3 gene locus in the family. The mutation 988(C to T) of KCNQ3 gene was found in the proband by DNA-direct sequencing. Cosegregation of this mutation with BFNC was confirmed by restriction endonuclease cutting analysis.</p><p><b>CONCLUSION</b>Chinese patients with BFNC can be caused by KCNQ3 gene mutation.</p>