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- W2968904865 abstract "Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic variants of the <i>RMRP</i> gene and characterized by metaphyseal bone dysplasia associated with hypotrichosis, immunodeficiency, and predisposition to malignancy. However, the genotype-phenotype correlation in CHH is not well understood. Here, we report a single country cohort of 23 Brazilian patients with clinical and radiological features consistent with CHH. We found 23 different pathogenic variants in the <i>RMRP</i> gene - 12 novel and 11 previously described in the literature. Interestingly, the most frequent Finnish pathogenic variant related to CHH (g.71A>G) was not found in our cohort. In contrast, more than 50% of the patients carried the rare g.196C>T variant suggesting a possible founder effect in the Brazilian population. In silico analysis showed that pathogenic variants occurred either in the regions conserved in mammalian species or within essential domains for the ribonucleoprotein complex. Pathogenicity prediction studies can improve the understanding of how these variants affect RNA." @default.
- W2968904865 created "2019-08-22" @default.
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- W2968904865 date "2019-01-01" @default.
- W2968904865 modified "2023-10-01" @default.
- W2968904865 title "Identification of Novel and Recurrent <b><i>RMRP</i></b> Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome" @default.
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- W2968904865 doi "https://doi.org/10.1159/000501892" @default.
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