Introduction Hearing impairment (HI) is characterized by complex genetic heterogeneity. The
evolution of next generation sequencing, including targeted enrichment panels, has
revolutionized HI diagnosis. Objectives In this study, we investigated genetic causes in 22
individuals with non-GJB2 HI. Methods We customized a Haloplex HS kit to include 30
genes known to be associated with autosomal recessive nonsyndromic HI (ARNSHI) and
Usher syndrome in North Africa. Results In accordance with the ACMG/AMP guidelines, we …

"Novel pathogenic mutations and further evidence for clinical relevance" by Abdullah AY
Gibriel, A Souissi et al. … Novel pathogenic mutations and further evidence for clinical
relevance of genes and variants causing hearing impairment in Tunisian population … Gibriel,
Abdullah AY; Souissi, A; BEN SAID, M; Ben Ayed, I; Elloumi, I; Bouzid, A; Mosrati, M; Hasnaoui,
M; Belcadhi, M; Idriss, N; Kamoun, H; Gharbi, N; Gibriel, Abdullah; Tlili, A; and MASMOUDI,
S, "Novel pathogenic mutations and further evidence for clinical relevance of genes and …