INTRODUCTION: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome. PATIENTS AND METHODS: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset. RESULTS: The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%). CONCLUSIONS: These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.
INTRODUCTION: The most frequent mutations responsible for non-syndromic hearing impairment in the Spanish population are the 35delG mutation in the connexin 26 gene (GJB2), the del(GJB6-D13S1830) deletion in the connexin 30 gene (GJB6), the Q829X mutation in the otoferlin gene (OTOF), and the A1555G mutation in the 12S rRNA gene of the mitochondrial genome. PATIENTS AND METHODS: Screening for these mutations was performed on 38 patients from Cantabria with non-syndromic sensorineural hearing impairment of congenital/childhood onset. RESULTS: The A1555G mutation was detected in homoplasmy in 9 patients (23.7%). Three individuals were heterozygous for the 35delG mutation (7.9%). The heterozygous del(GJB6-D13S1830) deletion was present in one case (2.6%). One subject was homozygous for the Q829X mutation (2.6%). CONCLUSIONS: These four mutations are present in 36.8% of all cases of non-syndromic hearing impairment in our population.
Authors: Rubén Cabanillas; Marta Diñeiro; Guadalupe A Cifuentes; David Castillo; Patricia C Pruneda; Rebeca Álvarez; Noelia Sánchez-Durán; Raquel Capín; Ana Plasencia; Mónica Viejo-Díaz; Noelia García-González; Inés Hernando; José L Llorente; Alfredo Repáraz-Andrade; Cristina Torreira-Banzas; Jordi Rosell; Nancy Govea; Justo Ramón Gómez-Martínez; Faustino Núñez-Batalla; José A Garrote; Ángel Mazón-Gutiérrez; María Costales; María Isidoro-García; Belén García-Berrocal; Gonzalo R Ordóñez; Juan Cadiñanos Journal: BMC Med Genomics Date: 2018-07-09 Impact factor: 3.063
Authors: Arti Pandya; Alexander O'Brien; Michael Kovasala; Guney Bademci; Mustafa Tekin; Kathleen S Arnos Journal: Mol Genet Genomic Med Date: 2020-02-17 Impact factor: 2.183