复合杂合度
癫痫
错义突变
遗传学
外显子组测序
血缘关系
突变
生物
西方综合征
遗传异质性
基因
外显子组
全球发育迟缓
表型
神经科学
作者
Takashi Saito,Atsushi Ishii,Kenji Sugai,Masayuki Sasaki,Shinichi Hirose
摘要
Epilepsy of infancy with migrating focal seizures ( EIMFS ) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the majority of causative mutations found in KCNT1 . Currently, gene panel or whole‐exome sequencing is used for testing. To verify the pathogenicity of a variant, co‐segregation of the variant and the disorder in a pedigree is important; hence, de novo mutations that are judged to be deleterious may be considered pathogenic because the patients are isolated. In contrast, in cases from non‐consanguineous families, genes that cause disorders in a recessive manner should remain as potential candidates. Herein, we performed gene panel sequencing of a patient with EIMFS from a non‐consanguineous family, and found a compound heterozygous constellation consisting of a maternally inherited p. Ser399Leu and a de novo p. Arg880Leu in SLC12A5 , which encodes the neuronal KCC2 cotransporter. These unique mutations show gene variants that act in a recessive manner may be pathogenic for patients from non‐consanguineous families.
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