Waardenburg症候群を呈した一家系

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We reported a familial case with Waardenburg syndrome Type-I. Grandmother, father, and elder and younger sister showed the lateral displacement of inner canthi, depressed and wide nasal root, depigmented iris and sensorineural hearing loss. Grandmother and father developed the unilateral profound hearing loss on the same side of the depigmented iris. Elder and younger sister showed bilateral deafness and bilateral depigmentation of the iris. This findings corresponded with the cases reported by Francois or Marcus. The vestibular functions examined by rotation test and caloric test were normal. Bony structures of the inner ear revealed by temporal bone CT were normal. These findings on these cases, i. e., sensorineural hearing loss, normal vestibular functions and boney structures of the inner ear might suggested that the membranous structures of these cases resembled to the inner ear pathology reported by Fisch. He reported that in one case of Waardenburg syndrome, the membranous structures of the vestibular were normal while the organ of the Corti were absent in all cochlear turns. In resent study, Ishikiriyama et al reported that the gene of the Waardenburg syndrome might be the inversion of (2) q35, q37.3. In this family, gene study has been undergoing, and in the near futuer the results may contribute the gene study of the Waardenburg syndrome.