Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
Abstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathol...
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| Language: | English |
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Wiley
2019-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.839 |
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| author | Justine Lerat Corinne Magdelaine Anne‐Françoise Roux Léa Darnaud Hélène Beauvais‐Dzugan Steven Naud Laurence Richard Paco Derouault Karima Ghorab Laurent Magy Jean‐Michel Vallat Pascal Cintas Eric Bieth Marie‐Christine Arne‐Bes Cyril Goizet Caroline Espil‐Taris Hubert Journel Annick Toutain Jon Andoni Urtizberea Odile Boespflug‐Tanguy Fanny Laffargue Philippe Corcia Laurent Pasquier Mélanie Fradin Sylva Napuri Jonathan Ciron Jean‐Marc Boulesteix Franck Sturtz Anne‐Sophie Lia |
| author_facet | Justine Lerat Corinne Magdelaine Anne‐Françoise Roux Léa Darnaud Hélène Beauvais‐Dzugan Steven Naud Laurence Richard Paco Derouault Karima Ghorab Laurent Magy Jean‐Michel Vallat Pascal Cintas Eric Bieth Marie‐Christine Arne‐Bes Cyril Goizet Caroline Espil‐Taris Hubert Journel Annick Toutain Jon Andoni Urtizberea Odile Boespflug‐Tanguy Fanny Laffargue Philippe Corcia Laurent Pasquier Mélanie Fradin Sylva Napuri Jonathan Ciron Jean‐Marc Boulesteix Franck Sturtz Anne‐Sophie Lia |
| author_sort | Justine Lerat |
| collection | DOAJ |
| description | Abstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known. Methods The aim of the study was to analyze among a French series of 3,412 patients with inherited peripheral neuropathy (IPN), the ones who also suffer from hearing loss, to establish phenotype‐genotype correlations. An NGS strategy for IPN one side and nonsyndromic hearing loss (NSHL) on the other side, were performed. Results Hearing loss (HL) was present in only 44 patients (1.30%). The clinical data of 27 patients were usable. Demyelinating neuropathy was diagnosed in 15 cases and axonal neuropathy in 12 cases. HL varied from mild to profound. Five cases of auditory neuropathy were noticed. Diagnosis was made for 60% of these patients. Seven novel pathogenic variants were discovered in five different genes: PRPS1; MPZ; SH3TC2; NEFL; and ABHD12. Two patients with PMP22 variant, had also an additional variant in COCH and MYH14 respectively. No pathogenic variant was found at the DFNB1 locus. Genotype‐phenotype correlations do exist, especially with SH3TC2, PRPS1, ABHD12, NEFL, and TRPV4. Conclusion Involvement of PMP22 is not enough to explain hearing loss in patients suffering from IPN. HL can be due to cochlear impairment and/or auditory nerve dysfunction. HL is certainly underdiagnosed, and should be evaluated in every patient suffering from IPN. |
| first_indexed | 2024-04-13T08:36:15Z |
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| id | doaj.art-fdb0f976071c48fd91636d29f0c9cf51 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-13T08:36:15Z |
| publishDate | 2019-09-01 |
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| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-fdb0f976071c48fd91636d29f0c9cf512022-12-22T02:54:06ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-09-0179n/an/a10.1002/mgg3.839Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat0Corinne Magdelaine1Anne‐Françoise Roux2Léa Darnaud3Hélène Beauvais‐Dzugan4Steven Naud5Laurence Richard6Paco Derouault7Karima Ghorab8Laurent Magy9Jean‐Michel Vallat10Pascal Cintas11Eric Bieth12Marie‐Christine Arne‐Bes13Cyril Goizet14Caroline Espil‐Taris15Hubert Journel16Annick Toutain17Jon Andoni Urtizberea18Odile Boespflug‐Tanguy19Fanny Laffargue20Philippe Corcia21Laurent Pasquier22Mélanie Fradin23Sylva Napuri24Jonathan Ciron25Jean‐Marc Boulesteix26Franck Sturtz27Anne‐Sophie Lia28University of Limoges, MMNP Limoges FranceUniversity of Limoges, MMNP Limoges FranceLaboratoire de Génétique Moléculaire CHU Montpellier Montpellier FranceService Biochimie et Génétique Moléculaire CHU Limoges Limoges FranceUniversity of Limoges, MMNP Limoges FranceService Biochimie et Génétique Moléculaire CHU Limoges Limoges FranceCRMR Neuropathies Périphériques Rares, CHU Limoges Limoges FranceService Biochimie et Génétique Moléculaire CHU Limoges Limoges FranceUniversity of Limoges, MMNP Limoges FranceUniversity of Limoges, MMNP Limoges FranceCRMR Neuropathies Périphériques Rares, CHU Limoges Limoges FranceService de Neurologie et d'explorations fonctionnelles CHU Toulouse Toulouse FranceService de Génétique Médicale CHU Toulouse Toulouse FranceService de Neurologie et d'explorations fonctionnelles CHU Toulouse Toulouse FranceService de Neurogénétique CHU Bordeaux Bordeaux FranceService de Génétique médicale CHU Bordeaux Bordeaux FranceService de Génétique Médicale CH Bretagne Atlantique Vannes FranceService de Génétique CHU Tours Tours FranceCentre de référence Neuromusculaire Hôpital marin Hendaye FranceService de Neurogénétique Hôpital Robert‐Debré AP‐HP Paris FranceService de Génétique médicale CHU Clermont‐Ferrand Clermont‐Ferrand FranceService de Neurologie CHU Tours Tours FranceService de Génétique médicale CHU Rennes Rennes FranceService de Génétique médicale CHU Rennes Rennes FranceService de Pédiatrie CHU Rennes Rennes FranceService de Neurologie CHU Poitiers Poitiers FranceService Neurologie CHU Cahors Cahors FranceUniversity of Limoges, MMNP Limoges FranceUniversity of Limoges, MMNP Limoges FranceAbstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known. Methods The aim of the study was to analyze among a French series of 3,412 patients with inherited peripheral neuropathy (IPN), the ones who also suffer from hearing loss, to establish phenotype‐genotype correlations. An NGS strategy for IPN one side and nonsyndromic hearing loss (NSHL) on the other side, were performed. Results Hearing loss (HL) was present in only 44 patients (1.30%). The clinical data of 27 patients were usable. Demyelinating neuropathy was diagnosed in 15 cases and axonal neuropathy in 12 cases. HL varied from mild to profound. Five cases of auditory neuropathy were noticed. Diagnosis was made for 60% of these patients. Seven novel pathogenic variants were discovered in five different genes: PRPS1; MPZ; SH3TC2; NEFL; and ABHD12. Two patients with PMP22 variant, had also an additional variant in COCH and MYH14 respectively. No pathogenic variant was found at the DFNB1 locus. Genotype‐phenotype correlations do exist, especially with SH3TC2, PRPS1, ABHD12, NEFL, and TRPV4. Conclusion Involvement of PMP22 is not enough to explain hearing loss in patients suffering from IPN. HL can be due to cochlear impairment and/or auditory nerve dysfunction. HL is certainly underdiagnosed, and should be evaluated in every patient suffering from IPN.https://doi.org/10.1002/mgg3.839Charcot‐Marie‐Toothhearing lossneuropathyNGS |
| spellingShingle | Justine Lerat Corinne Magdelaine Anne‐Françoise Roux Léa Darnaud Hélène Beauvais‐Dzugan Steven Naud Laurence Richard Paco Derouault Karima Ghorab Laurent Magy Jean‐Michel Vallat Pascal Cintas Eric Bieth Marie‐Christine Arne‐Bes Cyril Goizet Caroline Espil‐Taris Hubert Journel Annick Toutain Jon Andoni Urtizberea Odile Boespflug‐Tanguy Fanny Laffargue Philippe Corcia Laurent Pasquier Mélanie Fradin Sylva Napuri Jonathan Ciron Jean‐Marc Boulesteix Franck Sturtz Anne‐Sophie Lia Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series Molecular Genetics & Genomic Medicine Charcot‐Marie‐Tooth hearing loss neuropathy NGS |
| title | Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series |
| title_full | Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series |
| title_fullStr | Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series |
| title_full_unstemmed | Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series |
| title_short | Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series |
| title_sort | hearing loss in inherited peripheral neuropathies molecular diagnosis by ngs in a french series |
| topic | Charcot‐Marie‐Tooth hearing loss neuropathy NGS |
| url | https://doi.org/10.1002/mgg3.839 |
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