Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss
BACKGROUND: 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...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
AVES
2024-03-01
|
| Series: | Journal of International Advanced Otology |
| Online Access: | https://www.advancedotology.org/en/auditory-phenotype-of-a-novel-missense-variant-in-the-ceacam16-gene-in-a-large-russian-family-with-autosomal-dominant-nonsyndromic-hearing-loss-131912 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832543920772349952 |
|---|---|
| author | Tatiana G. Markova Natalia N. Alekseeva Oxana P. Ryzhkova Olga L. Shatokhina Anna A. Orlova Viktoriia V. Zabnenkova Olga S. Groznova Olesya V. Sagaydak Svetlana S. Chibisova Alexander V. Polyakov George A. Tavartkiladze |
| author_facet | Tatiana G. Markova Natalia N. Alekseeva Oxana P. Ryzhkova Olga L. Shatokhina Anna A. Orlova Viktoriia V. Zabnenkova Olga S. Groznova Olesya V. Sagaydak Svetlana S. Chibisova Alexander V. Polyakov George A. Tavartkiladze |
| author_sort | Tatiana G. Markova |
| collection | DOAJ |
| description | BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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. |
| format | Article |
| id | doaj-art-624002291141415b8d901c5708548814 |
| institution | Kabale University |
| issn | 2148-3817 |
| language | English |
| publishDate | 2024-03-01 |
| publisher | AVES |
| record_format | Article |
| series | Journal of International Advanced Otology |
| spelling | doaj-art-624002291141415b8d901c57085488142025-02-03T11:20:28ZengAVESJournal of International Advanced Otology2148-38172024-03-0120211912610.5152/iao.2024.231252Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing LossTatiana G. Markova0Natalia N. Alekseeva1Oxana P. Ryzhkova2Olga L. Shatokhina3Anna A. Orlova4Viktoriia V. Zabnenkova5Olga S. Groznova6Olesya V. Sagaydak7Svetlana S. Chibisova8Alexander V. Polyakov9George A. Tavartkiladze10Department of Audiology, Russian Medical Academy of Continuing Professional Education, Moscow, RussiaDepartment of Audiology, Russian Medical Academy of Continuing Professional Education, Moscow, RussiaThe Shared Resource Centre (SRC) “Genome”, Research Centre for Medical Genetics, Moscow, RussiaThe Shared Resource Centre (SRC) “Genome”, Research Centre for Medical Genetics, Moscow, RussiaThe Shared Resource Centre (SRC) “Genome”, Research Centre for Medical Genetics, Moscow, RussiaThe Shared Resource Centre (SRC) “Genome”, Research Centre for Medical Genetics, Moscow, RussiaCharitable Foundation for Medical and Social Genetic Assistance Projects “Genome of Life”, Moscow, RussiaDepartment of the Scientific and Medical, Evogen LLC, Moscow, RussiaDepartment of Audiology, Russian Medical Academy of Continuing Professional Education, Moscow, RussiaDNA-diagnostics Laboratory, Research Centre for Medical Genetics, Moscow, RussiaDepartment of Audiology, Russian Medical Academy of Continuing Professional Education, Moscow, RussiaBACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.https://www.advancedotology.org/en/auditory-phenotype-of-a-novel-missense-variant-in-the-ceacam16-gene-in-a-large-russian-family-with-autosomal-dominant-nonsyndromic-hearing-loss-131912 |
| spellingShingle | Tatiana G. Markova Natalia N. Alekseeva Oxana P. Ryzhkova Olga L. Shatokhina Anna A. Orlova Viktoriia V. Zabnenkova Olga S. Groznova Olesya V. Sagaydak Svetlana S. Chibisova Alexander V. Polyakov George A. Tavartkiladze Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss Journal of International Advanced Otology |
| title | Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss |
| title_full | Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss |
| title_fullStr | Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss |
| title_full_unstemmed | Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss |
| title_short | Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss |
| title_sort | auditory phenotype of a novel missense variant in the ceacam16 gene in a large russian family with autosomal dominant nonsyndromic hearing loss |
| url | https://www.advancedotology.org/en/auditory-phenotype-of-a-novel-missense-variant-in-the-ceacam16-gene-in-a-large-russian-family-with-autosomal-dominant-nonsyndromic-hearing-loss-131912 |
| work_keys_str_mv | AT tatianagmarkova auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT natalianalekseeva auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT oxanapryzhkova auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT olgalshatokhina auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT annaaorlova auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT viktoriiavzabnenkova auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT olgasgroznova auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT olesyavsagaydak auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT svetlanaschibisova auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT alexandervpolyakov auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss AT georgeatavartkiladze auditoryphenotypeofanovelmissensevariantintheceacam16geneinalargerussianfamilywithautosomaldominantnonsyndromichearingloss |