AOCCN2017

講演情報

Poster Presentation

[P2-1~135] Poster Presentation 2

2017年5月12日(金) 10:00 〜 15:40 Poster Room A (1F Navis A・B・C)

[P2-84] Analysis Of The Clinical Manifestation And DQ In Epileptic Children With A GPR98 Gene Mutation

Jingwen Zhang1, 2 (1.Department of Pediatrics, Guangdong General Hospital (Guangdong Academy of Medical Sciences), Guangdong Neuroscience, Guangdong Province, China, 2.Shantou University Medical College)

In this study, we investigated the relationship between gene mutations, clinical manifestations and developmental quotients of epileptic children with a GPR98 mutation. Clinical profiles and blood samples were collected from 65 epileptic children and their family members and 200 healthy control subjects. Genomic DNA was extracted from these samples, and an epilepsy-related gene mutation screen was conducted using next-generation sequencing technology and targeted resequencing. Gene mutation exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing in control subjects. The associations among gene mutations, clinical profiles and developmental quotients were then evaluated. Among the 65 families, eight novel mutations of the GPR98 gene were identified from the eight probands, including seven heterozygote missense mutations (c.6083C>T, c.1969A>C, c.17531C>T, c.9069G>C, c.12335T>G, c.6661G>A and c.18496A>C) and one nonsense mutation (c.14224G>T). One of the parents also carried the same GPR98 gene mutation observed in the probands. The initial symptom in five cases was afebrile seizures, and three cases involved febrile seizures. In these eight cases, the main type of seizures was the generalized type. Gesell development tests were used to test eight patients with a GPR98 gene mutation and 30 normal children. Upon comparison, patients with a GPR98 gene mutation had lower developmental quotients than did normal children (P<0.01). The main form of seizures in epileptic children with a GPR98 gene mutation was generalized-onset seizures. Their developmental delay may be associated with a GPR98 gene mutation.