Cargando…
Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature
(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a comp...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501263/ https://www.ncbi.nlm.nih.gov/pubmed/36143929 http://dx.doi.org/10.3390/medicina58091252 |
_version_ | 1784795431033634816 |
---|---|
author | Neagu, Alexandra-Cristina Budișteanu, Magdalena Gheorghe, Dan-Cristian Mocanu, Adela-Ioana Mocanu, Horia |
author_facet | Neagu, Alexandra-Cristina Budișteanu, Magdalena Gheorghe, Dan-Cristian Mocanu, Adela-Ioana Mocanu, Horia |
author_sort | Neagu, Alexandra-Cristina |
collection | PubMed |
description | (1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, in the first case in association with mitochondrial DNA study. (3) Results: The detected variants were: two heterozygous variants in the TWNK gene, one likely pathogenic and another of uncertain clinical significance (autosomal recessive mitochondrial DNA depletion syndrome type 7—hepatocerebral type); heterozygous variants of uncertain significance PACS2 and SYT2 genes (autosomal dominant early infantile epileptic encephalopathy) and a homozygous variant of uncertain significance in SUCLG1 gene (mitochondrial DNA depletion syndrome 9). Some of these genes have never been previously reported as associated with hearing problems. (4) Conclusions: Our cases bring new insights into some rare genetic syndromes. Although the role of TWNK gene in hearing impairment is clear and accordingly reflected in published literature as well as in the present article, for the presented gene variants, a correlation to hearing problems could not yet be established and requires more scientific data. We consider that further studies are necessary for a better understanding of the role of these variants. |
format | Online Article Text |
id | pubmed-9501263 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-95012632022-09-24 Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature Neagu, Alexandra-Cristina Budișteanu, Magdalena Gheorghe, Dan-Cristian Mocanu, Adela-Ioana Mocanu, Horia Medicina (Kaunas) Case Report (1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, in the first case in association with mitochondrial DNA study. (3) Results: The detected variants were: two heterozygous variants in the TWNK gene, one likely pathogenic and another of uncertain clinical significance (autosomal recessive mitochondrial DNA depletion syndrome type 7—hepatocerebral type); heterozygous variants of uncertain significance PACS2 and SYT2 genes (autosomal dominant early infantile epileptic encephalopathy) and a homozygous variant of uncertain significance in SUCLG1 gene (mitochondrial DNA depletion syndrome 9). Some of these genes have never been previously reported as associated with hearing problems. (4) Conclusions: Our cases bring new insights into some rare genetic syndromes. Although the role of TWNK gene in hearing impairment is clear and accordingly reflected in published literature as well as in the present article, for the presented gene variants, a correlation to hearing problems could not yet be established and requires more scientific data. We consider that further studies are necessary for a better understanding of the role of these variants. MDPI 2022-09-09 /pmc/articles/PMC9501263/ /pubmed/36143929 http://dx.doi.org/10.3390/medicina58091252 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Neagu, Alexandra-Cristina Budișteanu, Magdalena Gheorghe, Dan-Cristian Mocanu, Adela-Ioana Mocanu, Horia Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature |
title | Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature |
title_full | Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature |
title_fullStr | Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature |
title_full_unstemmed | Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature |
title_short | Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature |
title_sort | rare gene mutations in romanian hypoacusis patients: case series and a review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501263/ https://www.ncbi.nlm.nih.gov/pubmed/36143929 http://dx.doi.org/10.3390/medicina58091252 |
work_keys_str_mv | AT neagualexandracristina raregenemutationsinromanianhypoacusispatientscaseseriesandareviewoftheliterature AT budisteanumagdalena raregenemutationsinromanianhypoacusispatientscaseseriesandareviewoftheliterature AT gheorghedancristian raregenemutationsinromanianhypoacusispatientscaseseriesandareviewoftheliterature AT mocanuadelaioana raregenemutationsinromanianhypoacusispatientscaseseriesandareviewoftheliterature AT mocanuhoria raregenemutationsinromanianhypoacusispatientscaseseriesandareviewoftheliterature |