| Full text | |
| Author(s): Show less - |
Gomes, Maria E.
[1, 2]
;
Calatrava Paternostro, Luiza
[1, 2]
;
Moura, Valeria R.
[1, 2]
;
Antunes, Deborah
[3]
;
Caffarena, Ernesto R.
[3]
;
Horovitz, Dafne
[2, 4]
;
Sanseverino, Maria T.
[5]
;
Ferraz Leal, Gabriela
[6]
;
Felix, Temis M.
[7]
;
Pontes Cavalcanti, Denise
[8]
;
Clinton Llerena, Jr., Juan
[2, 4, 9, 10]
;
Gonzalez, Sayonara
[1, 2]
Total Authors: 12
|
| Affiliation: | [1] Fiocruz MS, IFF, Ctr Genet Med Dr Jose Carlos Cabral de Almeida, Lab Med Genom, Ave Rui Barbosa 716, BR-22250020 Rio De Janeiro, RJ - Brazil
[2] Fiocruz MS, IFF, Ctr Referencia Doencas Raras, Rio De Janeiro - Brazil
[3] Fiocruz MS, IOC, Lab Biofis Computac Modelagem Mol PROCC, Rio De Janeiro - Brazil
[4] Fiocruz MS, IFF, Ctr Genet Med Dr Jose Carlos Cabral de Almeida, Unidade Genet Clin, Rio De Janeiro - Brazil
[5] Univ Fed Rio Grande do Sul, Porto Alegre, RS - Brazil
[6] Inst Med Integral Prof Fernando Figueira, Recife, PE - Brazil
[7] Hosp Clin Porto Alegre, Serv Genet Med, Porto Alegre, RS - Brazil
[8] Univ Estadual Campinas, FCM, Dept Med Genet, Grp Displasias Esquelet, Campinas, SP - Brazil
[9] INAGEMP Inst Nacl Genet Med Populac, Porto Alegre, RS - Brazil
[10] Fundacao Arthur Sa Earp Jr, Fac Med, Petropolis, RJ - Brazil
Total Affiliations: 10
|
| Document type: | Journal article |
| Source: | MOLECULAR SYNDROMOLOGY; v. 10, n. 5, p. 255-263, NOV 2019. |
| Web of Science Citations: | 0 |
| Abstract | |
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder caused by pathogenic variants of the RMRP 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 RMRP 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. (AU) | |
| FAPESP's process: | 15/22145-6 - Contribution to the clinical and etiological study of the skeletal dysplasias and dysostosis in Brazil |
| Grantee: | Denise Pontes Cavalcanti |
| Support Opportunities: | Regular Research Grants |