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Article

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.

Molecular genetics and metabolism - 1 Jul 2026

Micale Lucia, Sturiale Luisa, Russo Federica, Di Muro Ester, Nardella Grazia, Pracella Riccardo, Lomuscio Sonia, Morlino Silvia, Benvenuto Mario, Messina Angela, Palmigiano Angelo, Carella Massimo, d'Orsi Giuseppe, Palumbo Pietro, Palumbo Orazio, Barone Rita, Castori Marco

Abstract excerpt

Autosomal recessive COG4-related congenital disorder of glycosylation [COG4-CDG(ar)] is caused by biallelic deleterious variants in COG4, which encodes a component of the conserved oligomeric Golgi complex lobe A. COG4-CDG(ar) has been described in six individuals to date, and its clinical manifestations and disease mechanisms remain poorly understood. Exome sequencing identified the homozygous COG4 c.1647+5G>A...

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

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Source

Identifiers

PMID: 42202558
DOI: 10.1016/j.ymgme.2026.110155

Genes

COG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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