| Autor: |
Martins FTA; Laboratório de Genética Molecular Humana, Centro de Engenharia Molecular e Genética, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil., Ramos BD; Departamento de Otorrinolaringologia e Fonoaudiologia Pediátrica, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brazil., Sartorato EL; Laboratório de Genética Molecular Humana, Centro de Engenharia Molecular e Genética, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil. |
| Jazyk: |
angličtina |
| Zdroj: |
Genetics and molecular biology [Genet Mol Biol] 2018 Oct-Dec; Vol. 41 (4), pp. 794-798. Date of Electronic Publication: 2018 Nov 14. |
| DOI: |
10.1590/1678-4685-GMB-2017-0194 |
| Abstrakt: |
HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impairment type for the grandfather. Paternity test of the mother of the proband confirmed that she has a de novo mutation. Furthermore, HDR syndrome was confirmed with new clinical evaluations showing right kidney agenesis in the proband. This is the first study reporting only deafness and renal abnormalities as symptoms of the p.Arg367* mutation in the GATA3 gene, and also the sixth HDR syndrome case in the world, and the first on the American continent. Together with other reported cases, this study highlights the variability of HDR syndrome symptoms in individuals with the p.Arg367* mutation, emphasizing the importance of molecular analyses for correct diagnosis. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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