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A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait
Author(s) -
Guala A.,
Germinetti V.,
Sebastiani F.,
Silengo M. C.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03400.x
Subject(s) - proband , sensorineural hearing loss , medicine , sensorineural deafness , autosomal recessive trait , hearing loss , genetics , audiology , biology , mutation , gene
In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.