Publications by authors named "M Profant"

47 Publications

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss.

Sci Rep 2021 Nov 18;11(1):22488. Epub 2021 Nov 18.

DIABGENE Laboratory, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.

The genetic heterogeneity of sensorineural hearing loss (SNHL) is a major hurdle to the detection of disease-causing variants. We aimed to identify underlying causal genes associated with mid-frequency hearing loss (HL), which contributes to less than about 1% of SNHL cases, by whole exome sequencing (WES). Thirty families segregating mid-frequency SNHL, in whom biallelic GJB2 mutations had been previously excluded, were selected from among 851 families in our DNA repository of SNHL. DNA samples from the probands were subjected to WES analysis and searched for candidate variants associated with SNHL. We were able to identify the genetic aetiology in six probands (20%). In total, we found three pathogenic and three likely pathogenic variants in four genes (COL4A5, OTOGL, TECTA, TMPRSS3). One more proband was a compound heterozygote for a pathogenic variant and a variant of uncertain significance (VUS) in MYO15A gene. To date, MYO15A and TMPRSS3 have not yet been described in association with mid-frequency SNHL. In eight additional probands, eight candidate VUS variants were detected in five genes (DIAPH1, MYO7A, TECTA, TMC1, TSPEAR). Seven of these 16 variants have not yet been published or mentioned in the available databases. The most prevalent gene was TECTA, identified in 23% of all tested families. Furthermore, we confirmed the hypothesis that a substantive portion of cases with this conspicuous audiogram shape is a consequence of a genetic disorder.
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http://dx.doi.org/10.1038/s41598-021-01876-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602250PMC
November 2021

YO-IFOS educational video special issue, part 4: Rhinology and Plastics.

Eur Ann Otorhinolaryngol Head Neck Dis 2021 Nov;138 Suppl 4:105-106

President of YO-IFOS. Department of Oto-Rhino-Laryngology Head and Neck Surgery, La Conception University Hospital, AP-HM, Aix Marseille Univ, Marseille, France.

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http://dx.doi.org/10.1016/j.anorl.2021.11.001DOI Listing
November 2021

YO-IFOS educational video special issue, part 3: Otology and laryngology.

Eur Ann Otorhinolaryngol Head Neck Dis 2021 Sep;138 Suppl 3:73-74

Department of Oto-Rhino-Laryngology Head and Neck Surgery, La Conception University Hospital, AP-HM, Aix-Marseille University, Marseille, France.

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http://dx.doi.org/10.1016/j.anorl.2021.09.005DOI Listing
September 2021

YO-IFOS educational video special issue, part 2: Head and neck.

Eur Ann Otorhinolaryngol Head Neck Dis 2021 Sep;138 Suppl 2:37-38

Vice-chair of the YO-IFOS Education Committee. Department of Paediatric Otolaryngology, Hôpital Necker-Enfants Malades, AP-HP - Université de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.anorl.2021.08.012DOI Listing
September 2021

YO-IFOS educational video special issue, part 1: Pediatrics.

Eur Ann Otorhinolaryngol Head Neck Dis 2021 Aug;138 Suppl 1

President of YO-IFOS. Department of Oto-Rhino-Laryngology Head and Neck Surgery, La Conception University Hospital, AP-HM, Aix Marseille Univ, Marseille, France.

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http://dx.doi.org/10.1016/j.anorl.2021.07.007DOI Listing
August 2021
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