Asunto(s)
Sordera/genética , Genoma Humano , Envejecimiento , Animales , ADN Mitocondrial/genética , Humanos , Ratones , Miopatías Mitocondriales/genéticaRESUMEN
The pathophysiology of sensorineural hearing impairment, which is a common clinical disorder, remains yet to be determined. For prelingual hearing loss, epidemiological data show that 1 neonate in 1,000 is born with severe to profound hearing loss, and in half of that number the loss is inherited. Some genes responsible for sensorineural hearing impairment have been cloned during the last several years, and the underlying mechanisms causing hearing impairment have begun to be clarified with the advent of recent developments in molecular genetics. Cases of non-syndromic deafness are classified by the mode of inheritance (DFNA, dominant; DFNB, recessive; DFN, X-linked), with the loci being numbered in the order of discovery. To date, 31 autosomal dominant, 28 autosomal recessive, and 6 X-linked non-syndromic sensorineural hearing impairment loci have been mapped, and 17genes have been cloned (Hereditary Hearing Loss Homepage, http://danallab-www.uia.ac.be.dnalab/hhh/). We have identified mutations in four of those 17 deafness genes in Japanese families. Clinical and genetic findings of the above disorders are reviewed.
Asunto(s)
Sordera/genética , Pérdida Auditiva Sensorineural/genética , Proteínas de Transporte de Membrana , Adolescente , Adulto , Animales , Proteínas Portadoras/genética , Niño , Preescolar , Conexinas/genética , ADN Mitocondrial/genética , Sordera/congénito , Modelos Animales de Enfermedad , Eliminación de Gen , Genes Dominantes/genética , Genes Recesivos/genética , Ligamiento Genético/genética , Pérdida Auditiva Sensorineural/congénito , Humanos , Recién Nacido , Japón , Ratones , Ratones Mutantes , Persona de Mediana Edad , Mutación/genética , Mutación Missense/genética , Transportadores de Sulfato , Sulfatos/metabolismo , Cromosoma X/genéticaRESUMEN
A recent report demonstrated the presence of a mutation in the Pendred syndrome gene (PDS) of patients with large vestibular aqueducts but without goitre. We studied PDS mutations in members of four Japanese families, among which five affected members showed bilateral enlarged vestibular aqueducts. All affected members exhibited moderate to severe bilateral fluctuating sensorineural hearing loss and the absence of goitre. Three members also suffered from recurrent episodic vertiginous spells. Analysis of PDS mutation revealed two single base changes (mis-sense mutations) in exons 19 and 10. The first was an A-->G transition at nucleotide position 2168, resulting in a predicted His-->Arg substitution at position 723 (H723R), whereas the second was a C-->T transition at nucleotide position 1229, resulting in a predicted Thr-->Met substitution at position 410 (T410M). Both mutations are situated in the extracellular domain close to the C terminal. It thus appears that PDS mutations can lead not only to classic Pendred syndrome, but also to large vestibular aqueduct syndrome.
Asunto(s)
Proteínas Portadoras/genética , Pérdida Auditiva Sensorineural/genética , Proteínas de Transporte de Membrana , Acueducto Vestibular/anomalías , Adolescente , Adulto , Audiometría de Tonos Puros , Niño , Análisis Mutacional de ADN , Femenino , Bocio/diagnóstico , Bocio/genética , Pérdida Auditiva Sensorineural/diagnóstico , Humanos , Imagen por Resonancia Magnética , Masculino , Transportadores de Sulfato , Síndrome , Tomografía Computarizada por Rayos X , Acueducto Vestibular/patologíaRESUMEN
Maxillary sinus mucocele, which appears more than 10 years after Caldwell-Luc surgery, is very rare in the United States or Europe. However, it is very common in Japan. It is called "postoperative maxillary sinus mucocele" or "postoperative maxillary cyst." In this paper, postoperative maxillary sinus mucoceles, which protruded into the orbits, are reported. One patient, a 50-year-old man, underwent Caldwell-Luc surgery 31 years ago, and the other patient, a 61-year-old woman, underwent Caldwell-Luc surgery at the age of 18. The incidence of this disease, symptoms, diagnosis and treatment are discussed in this paper.