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Article

RFT1-CDG in adult siblings with novel mutations.

Molecular genetics and metabolism - 1 Dec 2012

Ondruskova Nina, Vesela Katerina, Hansikova Hana, Magner Martin, Zeman Jiri, Honzik Tomas

Abstract excerpt

RFT1-CDG is a rare N-glycosylation disorder. Only 6 children with RFT1-CDG have been described, all with failure to thrive, feeding problems, hypotonia, developmental delay, epilepsy, decreased vision, deafness and thrombotic complications. We report on two young adult siblings with RFT1-CDG, compound heterozygotes for the novel missense mutations c.1222A>G (p.M408V) and c.1325G>A (p.R442Q) in RFT1 gene. Similar...

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Source

Identifiers

PMID: 23111317
DOI: 10.1016/j.ymgme.2012.10.002

Genes

RFT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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