SLC6A8基因突变家系1例报道

A case report of a family with SLC6A8 gene mutation

目的 探讨基因检测在脑肌酸缺乏综合征早期诊断中的临床意义,提高广大临床工作者对本病的认识。方法 报道1例通过基因检测确诊的肌酸缺乏综合征1型的中国家庭,该家庭兄弟二人均有明显的智力障碍,父母表型正常。对患者进行详细的病史询、电生理检查和全外显子组测序,基因检测结果通过一代测序验证。结果 在中国家庭中发现了SLC6A8基因的一个新的变异位点c.1569G>A,该变异为无义变异,兄弟二人均为半合子,遗传自母亲,母亲为杂合子,父亲为野生型。结论 扩大了中国人群中SLC6A8基因的变异谱。通过全外显子组测序并结合患者详细的临床评估有利于早期诊断肌酸缺乏综合征。

Objective To explore the clinical significance of genetic detection in early diagnosing cerebral creatine deficiency syndrome to improve clinical staff’s awareness of the disease. Methods One case of CCDS1confirmed by genetic detection was reported in a Chinese family that both two brothers have obviously intellectual disabilities and their parents are normal. The patient was asked about the detail medical history, nerve electrophysiological and whole exome sequencing(WES) were performed on the proband, Sanger sequencing was performed in family members to confirm candidate mutation. Results A new mutation site c.1569G>A in the SLC6A8 gene was discovered in a Chinese family. This mutation is a nonsense mutation. Both brothers are hemizygous and inherited from the mother, the mother is heterozygous, and the father is wild-type. Conclusion Expanded the variation spectrum of the SLC6A8 gene in the Chinese population. The whole exome sequencing combined with the detailed clinical evaluation of the patient is conducive to the early diagnosis of creatine deficiency syndrome.