The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.

doi:10.1016/j.ejmg.2022.104627

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Article

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.

European journal of medical genetics - 1 Dec 2022

Redin Claire, Pavlidou Despina Christina, Bhuiyan Zahurul, Porretta Alessandra Pia, Monney Pierre, Bedoni Nicola, Maurer Fabienne, Sekarski Nicole, Atallah Isis, Émeline Davoine, Jeanrenaud Xavier, Pruvot Etienne, Fellay Jacques, Superti-Furga Andrea

Abstract excerpt

MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these variants on reproductive fitness. One of them, a MYBPC3 splice variant, NM_000256.3:c.3330+2T > G, was first described in homozygous state in newborns presenting with a...

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PMID: 36162733
DOI: 10.1016/j.ejmg.2022.104627

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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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