Population
32 affected persons in a large Dutch family with DFNA2/KCNQ4-related hearing impairment caused by a W276S…
Design
Cohort
Authors
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Supports serial audiometry in KCNQ4 W276S carriers from infancy; leaves open whether progression informs amplification timing.
Persons with the KCNQ4 W276S missense mutation show congenital, progressive high-frequency hearing impairment without substantial loss of speech recognition during the first decades of life.
Leenheer et al. (2002) studied this question.
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