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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 high prevalence of n.197C&gt;T variant (former n.195C&gt;T and n.196C&gt;T) when compared to other populations. The aim of this study was to investigate a possible founder effect of the n.197C&gt;T variant in the <jats:italic>RMRP<\/jats:italic> gene in a series of CHH Brazilian patients. We have selected four TAG SNPs within chromosome 9 and genotyped the probands and their parents (23 patients previously described and nine novel). A common haplotype to the n.197C&gt;T variant carriers was identified. Patients were also characterized for 46 autosomal Ancestry Informative Markers (AIMs). European ancestry was the most prevalent (58%), followed by African (24%) and Native American (18%). Our results strengthen the hypothesis of a founder effect for the n.197C&gt;T variant in Brazil and indicate that this variant in the <jats:italic>RMRP<\/jats:italic> gene originated from a single event on chromosome 9 with a possible European origin.<\/jats:p>","DOI":"10.1038\/s41598-024-64407-8","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T16:03:56Z","timestamp":1718121836000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a founder effect involving n.197C&gt;T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients"],"prefix":"10.1038","volume":"14","author":[{"given":"Maria Eduarda","family":"Gomes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Kehdy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Saloum","family":"de Neves-Manta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dafne Dain Gandelman","family":"Horovitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Sanseverino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela Ferraz","family":"Leal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00eamis Maria","family":"Felix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise Pontes","family":"Cavalcanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Juan Clinton","family":"Llerena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayonara","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"64407_CR1","first-page":"285","volume":"116","author":"VA McKusick","year":"1965","unstructured":"McKusick, V. 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