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Article

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

Journal of medical genetics - 25 Jun 2026

Laver Thomas W, Sangha Preeah, Mallin Lucy, Cohen Michal, Ünsal Yağmur, Demirbilek Huseyin, Wakeling Matthew N, Bennett Jasmin J, Houghton Jayne A L, Männistö Jonna M E, Dempster Emma, Flanagan Sarah E

Abstract excerpt

Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developmental delay, hypotonia and endocrine abnormalities. Schaaf-Yang syndrome specifically results from heterozygous variants in the paternally expressed MAGEL2 gene. Because these...

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Identifiers

PMID: 41916724
DOI: 10.1136/jmg-2025-111282

Genes

MAGEL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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