RESUMO
Due to endogamy, the Roma have a higher risk for autosomal recessive (AR) disorders. We used homozygosity mapping on single-nucleotide polymorphism chips in one Czech Roma consanguineous family with non-syndromic hearing loss (NSHL). The second largest homozygous region in a deaf patient was mapped to the previously reported DFNB49 region. The MARVELD2 gene was recently reported as a causal gene for NSHL DFNB49. Sequencing of the MARVELD2 gene revealed a previously reported homozygous mutation c.1331+2 T>C (IVS4 + 2 T>C) in the deaf child. Subsequently, the same mutation was found in two more Roma families from an additional 19 unrelated Czech Roma patients with deafness tested for the MARVELD2 gene. To explore the importance of MARVELD2 mutations and DFNB49 for the general Czech and Central European population with early hearing loss we also tested 40 unrelated Czech patients with AR NSHL. No pathogenic mutation in the MARVELD2 gene was found in a group of 40 Czech non-Roma patients. Mutations in the MARVELD2 gene seem to be a significant cause of early NSHL in Czech Roma and this gene should be tested in this group of patients after GJB2.
Assuntos
Surdez/genética , Etnicidade/genética , Proteína 2 com Domínio MARVEL/genética , Conexina 26 , Conexinas , República Tcheca , Análise Mutacional de DNA , Surdez/patologia , Genes Recessivos/genética , Homozigoto , Humanos , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
In 1987-1988 323 children with conduction hypacusia were examined. Among the in 103 secretory otitis media was detected, i.e. 31.8%. The authors defined diagnostic and therapeutic approaches to the disease which may cause life-long anatomical and functional damage of the organ of hearing.
Assuntos
Otite Média com Derrame , Adolescente , Criança , Pré-Escolar , Feminino , Perda Auditiva Condutiva/etiologia , Humanos , Masculino , Otite Média com Derrame/complicações , Otite Média com Derrame/diagnósticoRESUMO
In 1984-1987 the authors followed up a selected group of 15 children with a long-standing history of secretory otitis media and latent mastoiditis. In there of them the condition was complicated by labyrinthitis. Mastoidectomy which was performed in 12 children contributed to the healing of chronic inflammatory changes in the middle ear.
