Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization.

OBJECTIVE: 18q deletion syndrome is a multiple-anomaly mental retardation syndrome associated with congenital aural atresia. The purpose of this study was to determine the frequency of the congenital aural atresia phenotype in 18q deletion syndrome patients and to delineate a potential critical region for congenital aural atresia at the 18q22.3-18q23 region. STUDY DESIGN AND PATIENTS: The study describes one 18q deletion syndrome clinical report (Patient 15) with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome. RESULTS: Our investigation, together with the results of published 18q deletion syndrome reports, shows that the average frequency of congenital aural atresia is approximately 52%. A combination of three 18q deletion syndrome probands defines a chromosomal deletion site for congenital aural atresia at 18q22.3-18q23 in the region between markers D18S489 and D18S554. These polymorphic markers outline a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1. The haploinsufficiency of these genes is suggested to be a primary cause of congenital aural atresia phenotype in 18q deletion syndrome individuals. CONCLUSION: Congenital aural atresia is a relevant diagnostic clue and a major recognizable feature of 18q deletion syndrome. Early diagnosis of 18q deletion syndrome may enable application of hearing aids. Knockout studies on the congenital aural atresia mouse gene homolog may add further insight into the genes responsible for this condition.

Voice field measurements--a new method of examination: the influence of hearing on the human voice.

There are various methods to evaluate voice parameters. Original software was used to assess the voice quality by the staff of AUDIO-Fon centr Brno, Czech Republic. A group of hereditary deaf persons was examined. Deaf persons have all of the biological conditions to make voice except for the possibility of acoustic feedback. We examined the voices of 35 persons (20 men and 15 women) with hereditary profound hearing impairments, and we compared voice parameters with the voice of intact persons. To measure we used special software called voice field measurements (VFMs). The program graphically records voice frequency and intensity. VFM is an objective method that enables the assessment of basic physical voice characteristics. It is suitable for the examination of both intact and disturbed voice. The voice of the deaf has a higher basic voice frequency in men as well as in women. This type of voice production, ie, childlike voice, which is fixed only by a motor stereotype, is much more demanding for a mature larynx. Hearing influences both the voice development and speech production. The voice of persons with hearing impairments has a higher basic voice frequency regardless of their sex. This type of voice production, which is fixed only by a motor stereotype, ie, child voice, is much more demanding for a larynx of an adult. Thus, phonation of deaf people is more demanding and their voice production needs greater effort. Deaf people, despite an intact phonic apparatus, cannot produce more than one type of voice. They cannot modulate their voices concerning the frequency and dynamics. They cannot change their voices continually. The voice is limited in both of these parameters (frequency and dynamics). If a deaf person wants to change a voice characteristic, it is possible only by discontinuous changes-"skipping."