Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

• DOI: 10.3389/fgene.2024.1384094
• Publication Date: 2024-04-22T14:19:42Z
• Authors: Rahma Mkaouar; Zied Riahi; Jihene Marrakchi; Nessrine Mezzi; Lilia Romdhane; Maroua Boujemaa; Hamza Dallali; Marwa Sayeb; Saida Lahbib; Hager Jaouadi; Hela Boudabbous; Lotfi Zekri; Mariem Chargui; Olfa Messaoud; Meriem Elyounsi; Ichraf Kraoua; Anissa Zaouak; Ilhem Turki; Mourad Mokni; Sophie Boucher; Christine Petit; Fabrice Giraudet; Chiraz Mbarek; Ghazi Besbes; Soumeyya Halayem; Rim Zainine; Hamida Turki; Amel Tounsi; Crystel Bonnet; Ridha Mrad; Sonia Abdelhak; Mediha Trabelsi; Cherine Charfeddine
• Keywords: Genodermatosis; Sanger sequencing; Exome

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due limited access comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by and heterogeneity. This study aimed uncover SD spectrum through 14-year investigation Tunisian cohort encompassing 700 patients from four referral centers (2007–2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, Whole Exome analysis in 30 identified diagnoses such as Usher syndrome, Waardenburg cranio-facial-hand-deafness H syndrome. latter rare genodermatosis HI, hyperpigmentation, hypertrichosis, systemic manifestations. A meta-analysis integrating our findings existing data revealed that nearly corresponded inherited metabolic disorders. Distinguishing between non-syndromic poses challenge, where age onset progression features significantly impact accurate diagnoses. Despite advancements local characterization capabilities, certain ultra-rare forms remain underdiagnosed. research contributes critical insights inform molecular diagnosis approaches Tunisia broader North-African region, thereby facilitating informed decision-making practice.