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Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

ABSTRACT: 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.

SUBMITTER: Nair P

PROVIDER: S-EPMC6824894 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Nair Pratibha P El-Bazzal Lara L Mansour Hicham H Sabbagh Sandra S Al-Ali Mahmoud Taleb MT Gambarini Alicia A Delague Valerie V El-Hayek Stephany S Mégarbané André A

Journal of pediatric genetics 20190730 4

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 > ...[more]

PMID: 31687267

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