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Article

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome.

Journal of medical genetics - 1 Jul 2022

Huang Yue, Grand Katheryn, Kimonis Virginia, Butler Merlin G, Jain Suparna, Huang Alden Yen-Wen, Martinez-Agosto Julian A, Nelson Stanley F, Sanchez-Lara Pedro A

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is an imprinting disorder caused by the absence of paternal expressed genes in the Prader-Willi critical region (PWCR) on chromosome 15q11.2-q13. Three molecular mechanisms have been known to cause PWS, including a deletion in the PWCR, uniparental disomy 15 and imprinting defects. RESULTS: We report the first case of PWS associated with a single-nucleotide SNRPN variant in...

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Identifiers

PMID: 34099539
DOI: 10.1136/jmedgenet-2020-107674

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