Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
作者： Joseph D. Symonds , Shelagh Joss , Kay A. Metcalfe , Suresh Somarathi , Jamie Cruden
DOI: 10.1111/EPI.13669
关键词:
摘要: SummaryObjective The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated this PCDH19, an X-linked disorder restricted to females, and males mosaicism. The SMC1A gene, which encodes a structural component cohesin complex also located on X chromosome. Missense variants small in-frame deletions cause approximately 5% Cornelia de Lange Syndrome (CdLS). Recently, protein truncating mutations have been reported five all whom affected by drug-resistant epilepsy, severe developmental impairment. Our objective was further delineate truncation. Method Female cases novo truncation were identified from Deciphering Developmental Disorders (DDD) study (n = 8), postmortem testing twin 1), clinical gene panel 1). Detailed information each case obtained. Results Ten heterozygous are presented. All 10 predicted result premature protein. female, none had diagnosis CdLS. They presented onset epileptic seizures between <4 weeks 28 months age. In majority cases, marked preponderance for occur clusters noted. Seizure regression. Moderate or impairment apparent cases. Significance Truncation cluster females. These likely be nonviable males.
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