Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

J Hum GenetJul 16, 2026 (epub)
Case ReportMedical GeneticsOpen access

Ayumi Yoshimura, Yoshiteru Azuma, Keisuke Hamada et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Congenital disorders of glycosylation (CDG) comprise a diverse group of inherited metabolic diseases caused by defects in glycan biosynthesis. SSR4-CDG is an ultra-rare X-linked disorder caused by pathogenic variants in SSR4, which encodes a subunit of the translocon-associated protein (TRAP) complex involved in endoplasmic reticulum N-linked glycosylation.

Source

PubMed · PMID 42463952Free full text on PubMed Central

Published in J Hum Genet. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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