| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000424596 |
| ISSN: | 1415-4757 |
| Autores: | Martins, Fábio Tadeu Arrojo1 Ramos, Berenice Dias2 Sartorato, Edi Lúcia1 |
| Instituciones: | 1Universidade Estadual de Campinas, Laboratório de Genética Molecular Humana, Campinas, Sao Paulo. Brasil 2Pontificia Universidade Catolica do Rio Grande do Sul, Departamento de Otorrinolaringologia e Fonoaudiologia Pediátrica, Porto Alegre, Rio Grande do Sul. Brasil |
| Año: | 2018 |
| Periodo: | Dic |
| Volumen: | 41 |
| Número: | 4 |
| Paginación: | 794-798 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized byhypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from whichthe proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2,GJB6 and MTRNR1genes in the proband showed no alterations; however, whole exome se-quencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in theGATA3gene. Segregation analysesshowed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impair-ment type for the grandfather. Paternity test of the mother of the proband confirmed that she has ade novomutation. 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 GATA 3 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 individualswith the p.Arg367* mutation, emphasizing the importance of molecular analyses for correct diagnosis |
| Disciplinas: | Medicina |
| Palabras clave: | Otorrinolaringología, Nefrología, Genética, Síndrome de HDR, Hipoparatiroidismo, Sordera congénita, Anomalías renales, Secuenciación, Exoma |
| Keyword: | Otolaryngology, Nephrology, Genetics, HDR syndrome, Hypoparathyroidism, Congenital deafness, Renal abnormalities, Sequencing, Exome |
| Texto completo: | Texto completo (Ver PDF) |
