Open AccessFurther Delineation of the TRAPPC6B Disorder: Report on a New Family and Review
Author(s) -
Pratibha Nair,
Lara El-Bazzal,
Hicham Mansour,
Sandra Sabbagh,
Mahmoud Taleb AlAli,
A Gambarini,
Valérie Delague,
Stephany ElHayek,
André Mégarbané
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1693664
Subject(s) - microcephaly , exome sequencing , global developmental delay , phenotype , genetics , exon , epilepsy , exome , gene , lactic acidosis , medicine , biology , neuroscience
Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old boy, born to consanguineous Lebanese parents, who presented with developmental delay, lactic acidosis, postnatal microcephaly, and abnormal brain magnetic resonance imaging. By whole exome sequencing, a novel homozygous likely pathogenic variant in exon 1 of the TRAPPC6B gene (c.23T > A; [p.Leu8*]) was identified. A review of the clinical description and literature is discussed, pointing out the phenotypic heterogeneity associated with mutations in this gene.