Clinical and genetic features of a large Chinese family with nonsyndromic autosomal dominant hearing loss / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 414-421, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-746800
ABSTRACT
OBJECTIVE@#To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.@*METHOD@#Pedigree was drawn after investigation. Fifeteen family members were checked up, and detailed audiological examination was performed.@*RESULT@#The proband of the kindred had been diagnosed with senserineural hearing loss. A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained. The inheritance pattern of this family is autosomal dominant based on the investigated information. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing impairment. The age of onset varied from 20 to 35 years. The hearing loss began at high frequencies, and lower frequencies became involved with increasing age.@*CONCLUSION@#Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family. The information should facilitate linkage analysis and positional cloning for the causative gene of this family.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
China
/
Edad de Inicio
/
Patrón de Herencia
/
Pueblo Asiatico
/
Genes Dominantes
/
Genética
/
Pérdida Auditiva Sensorineural
Límite:
Adulto
/
Humanos
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Año:
2012
Tipo del documento:
Artículo
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