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Article

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.

Journal of human genetics - 1 Nov 2024

Khabou Boudour, Sahari Umar Bin Mohamad, Ben Issa Abir, Bouchaala Wafa, Szenker-Ravi Emmanuelle, Yu Jin Ng Alvin, Bonnard Carine, Mbarek Hamdi, Zeyaul Islam, Fakhfakh Faiza, Kammoun Fatma, Reversade Bruno, Charfi Triki Chahnez

Abstract excerpt

The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In this study, we reported a Tunisian patient manifesting hypotonia and global developmental delay with visual and skin abnormalities. Exome sequencing was conducted followed by segregation analysis and,...

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Share to Adaptor Proteins, Vesicular Transport
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Mutation, Missense

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Share to Polymorphism, Single Nucleotide

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PMID: 38987656
DOI: 10.1038/s10038-024-01273-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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