Genetic hearing loss: a study of 228 Brazilian patients
We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound and neurosensorial in 47.4% of the patients. An early onset of hearing loss (< 2 years of age) occurred in 46.5% of the cases. These results are similar to previous literature reports.
Autores principales: | Longhitano,Silvia Bragagnolo, Brunoni,Décio |
---|---|
Formato: | Digital revista |
Idioma: | English |
Publicado: |
Sociedade Brasileira de Genética
2000
|
Acceso en línea: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100004 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Classification and hearing evolution of patients with sudden sensorineural hearing loss
por: Penido,N.O., et al.
Publicado: (2009) -
Genetic and audiologic study in elderly with sensorineural hearing loss
por: Martins,Kelly, et al.
Publicado: (2013) -
Hearing loss in patients with diabetes mellitus
por: Diniz,Thiago Hernandes, et al.
Publicado: (2009) -
Hearing handicap in patients with chronic kidney disease: a study of the different classifications of the degree of hearing loss
por: Costa,Klinger Vagner Teixeira da, et al.
Publicado: (2017) -
Anomalias oculares em pacientes portadores de deficiência auditiva genética
por: Chen,Jane, et al.
Publicado: (2000)