Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Rahma Mkaouar,
Zied Riahi,
Jihene Marrakchi
et al.
Abstract:Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four refer… Show more
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