COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

ABSTRACT:

Background

CDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published patients have had prenatal ultrasound anomalies reported and no one post-mortem investigation.

Methods

We used whole-exome sequencing in a consanguineous Turkish family with four siblings presenting with Pierre Robin sequence, arthrogryposis, heart malformation, splenomegaly, hydrocephaly, corpus callosum dysgenesis, brainstem, and cerebellar hypoplasia.

Results

We identified a novel homozygous pathogenic variant in exon 9 of COG6 (NM_020751.2): c.821del, p.(Arg274Lysfs*32). In this family, our post-mortem study led us to describe fur

SUBMITTER: Guterman S 

PROVIDER: S-EPMC11986689 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature