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Article

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.

Italian journal of pediatrics - 11 Oct 2022

Lebredonchel E, Riquet A, Neut D, Broly F, Matthijs G, Klein A, Foulquier F

Abstract excerpt

BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes a phosphomannomutase. Here, a novel genetic variation causing PMM2-CDG is reported. CASE PRESENTATION: We report the case...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36221102
DOI: 10.1186/s13052-022-01355-x
PMCID: PMC9552460

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