CONCLUSION: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation. OBJECTIVES: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe. METHODS: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses. RESULTS: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.
CONCLUSION: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation. OBJECTIVES: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe. METHODS: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses. RESULTS: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.
Authors: Nikolay A Barashkov; Vera G Pshennikova; Olga L Posukh; Fedor M Teryutin; Aisen V Solovyev; Leonid A Klarov; Georgii P Romanov; Nyurgun N Gotovtsev; Andrey A Kozhevnikov; Elena V Kirillina; Oksana G Sidorova; Lena M Vasilyevа; Elvira E Fedotova; Igor V Morozov; Alexander A Bondar; Natalya A Solovyevа; Sardana K Kononova; Adyum M Rafailov; Nikolay N Sazonov; Anatoliy N Alekseev; Mikhail I Tomsky; Lilya U Dzhemileva; Elza K Khusnutdinova; Sardana A Fedorova Journal: PLoS One Date: 2016-05-25 Impact factor: 3.240
Authors: K Sigvard Olsson; Olof Wålinder; Ulf Jansson; Maria Wilbe; Marie-Louise Bondeson; Eva-Lena Stattin; Ruma Raha-Chowdhury; Roger Williams Journal: Hereditas Date: 2017-12-19 Impact factor: 3.271
Authors: Edmond Wonkam Tingang; Jean Jacques Noubiap; Jean Valentin F Fokouo; Oluwafemi Gabriel Oluwole; Séraphin Nguefack; Emile R Chimusa; Ambroise Wonkam Journal: Genes (Basel) Date: 2020-02-22 Impact factor: 4.141