INVESTIGATION OF A HUGE FAMILY WITH AUTOSOMAL DOMINANT HEREDITARY NON-SYNDROMIC HEARING LOSS / 解放军医学杂志

ABSTRACT

To investigate a huge family with autosomal dominant hereditary non syndromic hearing loss. In this family, sixty six of 113 family members and 8 spouses have been conducted physical examination, pure tone audiometry, immittance testing and auditory brainstem response testing (ABR). The results indicated that 37 of 66 tested family members have sensorineural hearing loss in various degrees. No associated visible abnormalities in other systems were found in this family. The mode of inheritance of this family should be autosomal dominant according to its pedigree. The full collections of both blood samples and physiological hearing assessments of this family have provided the solid basis for future study on identifying disease causing gene.