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Article

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

American journal of human genetics - 4 Apr 2013

Ng Bobby G, Buckingham Kati J, Raymond Kimiyo, Kircher Martin, Turner Emily H, He Miao, Smith Joshua D, Eroshkin Alexey, Szybowska Marta, Losfeld Marie E, Chong Jessica X, Kozenko Mariya, Li Chumei, Patterson Marc C, Gilbert Rodney D, Nickerson Deborah A, Shendure Jay, Bamshad Michael J, Freeze Hudson H

Abstract excerpt

Biochemical analysis and whole-exome sequencing identified mutations in the Golgi-localized UDP-galactose transporter SLC35A2 that define an undiagnosed X-linked congenital disorder of glycosylation (CDG) in three unrelated families. Each mutation reduced UDP-galactose transport, leading to galactose-deficient glycoproteins. Two affected males were somatic mosaics, suggesting that a wild-type SLC35A2 allele may...

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Identifiers

PMID: 23561849
DOI: 10.1016/j.ajhg.2013.03.012
PMCID: PMC3617373

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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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