Data/hora: 06/06/2024 00:54:39

Provedor de dados: | 74
País: | Brazil
Título: | A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
Autores: | Martins,Fábio Tadeu Arrojo; Ramos,Berenice Dias; Sartorato,Edi Lúcia.
Data: | 2018-12-01
Ano: | 2018
Palavras-chave: | HDR syndrome; Hypoparathyroidism; Deafness; Renal abnormalities; Whole exome sequencing.
Resumo: | Abstract 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 &gt; 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500794
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2017-0194
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.41 n.4 2018
Fonte: | info:eu-repo/semantics/openAccess