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

doi:10.1002/mgg3.2442

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Article

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

Molecular genetics & genomic medicine - 1 Apr 2025

Guterman Sarah, Feresin Agnese, Boutaud Lucile, Jacquin Clémence, Lyonnet Stanislas, Bernard Jean-Pierre, Colmant Claire, Roth Philippe, Bourgon Nicolas, Mace Pierre, Thoreau Alice, Ville Yves, Bengoa Joana, Ait Arkoub Zaina, Fourrage Cécile, Encha-Razavi Ferechté, Bessières Bettina, Attié-Bitach Tania

Abstract excerpt

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...

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Topics

Female
Humans
Male
Pregnancy
Adaptor Proteins, Vesicular Transport

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome Sequencing

Pedigree

Phenotype

Prenatal Diagnosis

Consanguinity

Abnormalities, Multiple

Pierre Robin Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 40213872
DOI: 10.1002/mgg3.2442
PMCID: PMC11986689

Genes

COG6

Provenance

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