A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

Autor: Plantinga RF; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. r.plantinga@kno.umcn.nl, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW
Jazyk: angličtina
Zdroj: Journal of the Association for Research in Otolaryngology : JARO [J Assoc Res Otolaryngol] 2006 Jun; Vol. 7 (2), pp. 173-81. Date of Electronic Publication: 2006 Apr 25.
DOI: 10.1007/s10162-006-0033-z
Abstrakt: A novel TECTA mutation, p.R1890C, was found in a Dutch family with nonsyndromic autosomal dominant sensorineural hearing impairment. In early life, presumably congenital, hearing impairment occurred in the midfrequency range, amounting to about 40 dB at 1 kHz. Speech recognition was good with all phoneme recognition scores exceeding 90%. An intact horizontal vestibuloocular reflex was found in four tested patients. The missense mutation is located in the zona pellucida (ZP) domain of alpha-tectorin. Mutations affecting the ZP domain of alpha-tectorin are significantly associated with midfrequency hearing impairment. Substitutions affecting other amino acid residues than cysteines show a significant association with hearing impairment without progression. Indeed, in the present family progression seemed to be absent. In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of alpha-tectorin.
Databáze: MEDLINE
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