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Article

Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.

American journal of human genetics - 11 Jul 2024

Heimdörfer David, Vorleuter Alexander, Eschlböck Alexander, Spathopoulou Angeliki, Suarez-Cubero Marta, Farhan Hesso, Reiterer Veronika, Spanjaard Melanie, Schaaf Christian P, Huber Lukas A, Kremser Leopold, Sarg Bettina, Edenhofer Frank, Geley Stephan, de Araujo Mariana E G, Huettenhofer Alexander

Abstract excerpt

The neurodevelopmental disorders Prader-Willi syndrome (PWS) and Schaaf-Yang syndrome (SYS) both arise from genomic alterations within human chromosome 15q11-q13. A deletion of the SNORD116 cluster, encoding small nucleolar RNAs, or frameshift mutations within MAGEL2 result in closely related phenotypes in individuals with PWS or SYS, respectively. By investigation of their subcellular localization, we observed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38908375
DOI: 10.1016/j.ajhg.2024.05.023
PMCID: PMC11267527

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.PMID 38908375Read ↗

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