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Article

Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.

Journal of clinical laboratory analysis - 1 Feb 2026

Hong Youn-Ji, Yang Misun, Kwon Hyeon Jeong, Cha Jooyoung, Jang Ja-Hyun, Wang Sung Eun, Lee Eun Sun, Jang Mi-Ae

Abstract excerpt

BACKGROUND: Schaaf-Yang syndrome (SYS) is a rare genetic disorder caused by pathogenic variants in MAGEL2, a paternally expressed and maternally imprinted gene on 15q11.2. Genetic diagnosis of SYS is challenging due to clinical features that overlap with those of other rare syndromic disorders and limited clinician awareness regarding the diagnosis of imprinting disorders. METHODS: We present a neonate presenting...

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Identifiers

PMID: 41423862
DOI: 10.1002/jcla.70152
PMCID: PMC12888762

Genes

MAGEL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

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Identification of a De Novo MAGEL2 Pathogenic Variant in Schaaf-Yang Syndrome and the Importance of Paternal Allele Confirmation.PMID 41423862Read ↗

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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.Semantic proximity Read ↗

Schaaf‐Yang syndrome overview: Report of 78 individualsSemantic proximity Read ↗

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Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2.Semantic proximity Read ↗

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