Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
Rattachement africain : ru. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the development of DFNA4B hearing loss. Currently, 8 pathogenic variants in this gene have been described. The objective of this study was to study the audiological and molecular genetic characteristics of a large family with CEACAM16-associated autosomal dominant nonsyndromic hearing loss. A detailed anamnesis was collected, and a comprehensive audiological examination was performed for 21 family members. Genetic testing was performed, including whole-genome sequencing for the proband's son and Sanger sequence analysis for the proband and for all available family members. In a large Russian family, including 5 generations, an autosomal dominant type of slowly progressing nonsyndromic late-onset hearing loss was observed. Eleven family members suffer from hearing impairment, which starts with tinnitus and threshold increase at high frequencies, since the age of 5-20 years. Hearing loss slowly progresses with age in each person and is similar to age-related hearing loss. We have detected the novel likely pathogenic variant с.419С>T (p.(Thr140Ile)) in exon 3 of the CEACAM16 gene, which segregates with late-onset nonsyndromic hearing loss in this family. The clinical data obtained in the examined family correspond with the phenotype in previously described cases. In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
- Date Crossref
- 29/03/2024
- Éditeur
- Caleo
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Russian Medical Academy of Continuous Professional Education pays non établi dans la noticeUniversité ou école supérieure
-
Research Centre for Medical Genetics The Shared Resource Centre (SRC) "Genome" pays non établi dans la noticeÉtablissement de santé
-
Department of Audiology pays non établi dans la noticeInstitution
-
DNA-diagnostics Laboratory pays non établi dans la noticeStructure de recherche
-
Department of the Scientific and Medical pays non établi dans la noticeInstitution
-
Charitable Foundation for Medical and Social Genetic Assistance Projects "Genome of Life" pays non établi dans la noticeOrganisation à but non lucratif
Russian Medical Academy of Continuous Professional Education, The Shared Resource Centre (SRC) "Genome" — Research Centre for Medical Genetics et Department of Audiology, avec 3 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.