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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Scientific reports - 11 Jun 2024

Gomes Maria Eduarda, Kehdy Fernanda, de Neves-Manta Fernanda Saloum, Horovitz Dafne Dain Gandelman, Sanseverino Maria Teresa, Leal Gabriela Ferraz, Felix Têmis Maria, Cavalcanti Denise Pontes, Llerena Juan Clinton, Gonzalez Sayonara

Abstract excerpt

Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.71A>G), the most common RMRP variant worldwide. More than 130 pathogenic variants in this gene have already been described associated with CHH, and founder alterations were reported in the Finnish and Japanese populations. Our previous study in Brazilian CHH patients showed a...

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Identifiers

PMID: 38862721
DOI: 10.1038/s41598-024-64407-8
PMCID: PMC11166637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.PMID 38862721Read ↗

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