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Article

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

American journal of human genetics - 1 Oct 2015

Mejlachowicz Dan, Nolent Flora, Maluenda Jérome, Ranjatoelina-Randrianaivo Hanitra, Giuliano Fabienne, Gut Ivo, Sternberg Damien, Laquerrière Annie, Melki Judith

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is characterized by the presence of multiple joint contractures resulting from reduced or absent fetal movement. Here, we report two unrelated families affected by lethal AMC. By genetic mapping and whole-exome sequencing in a multiplex family, a heterozygous truncating MAGEL2 mutation leading to frameshift and a premature stop codon (c.1996delC, p.Gln666Serfs∗36) and...

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Source

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Identifiers

PMID: 26365340
DOI: 10.1016/j.ajhg.2015.08.010
PMCID: PMC4596890

Genes

MAGEL2

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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