Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Autor: Hélène Beauvais-Dzugan, Paco Derouault, Laurent Pasquier, Corinne Magdelaine, Steven Naud, Anne-Françoise Roux, Laurent Magy, Odile Boespflug-Tanguy, Laurence Richard, Léa Darnaud, Jean-Marc Boulesteix, Anne-Sophie Lia, Caroline Espil-Taris, Cyril Goizet, Pascal Cintas, Marie-Christine Arne-Bes, Fanny Laffargue, Eric Bieth, Philippe Corcia, Mélanie Fradin, Franck Sturtz, Sylva Napuri, Jon Andoni Urtizberea, Hubert Journel, Karima Ghorab, Jean-Michel Vallat, Justine Lerat, Jonathan Ciron, Annick Toutain
Přispěvatelé: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service d'Oto-rhino-laryngologie (ORL) et chirurgie cervico-faciale [CHU Limoges], CHU Limoges, Service de Biochimie et Génétique Moléculaire [CHU Limoges], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de référence national neuropathies périphériques rares [CHU Limoges], Services de Neurologie [CHU Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre de référence de pathologie neuromusculaire, CHU Toulouse, Centre hospitalier universitaire de Toulouse - CHU Toulouse, Service de Génétique Médicale, CHU Toulouse, Toulouse, France., Service de neurogénétique - CHU Bordeaux, CHU Bordeaux [Bordeaux], Service de Génétique Médicale du CHU de Bordeaux, Service de Génétique Médicale - Centre Hospitalier Bretagne Atlantique, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Laboratoire de Génétique Moléculaire [CHU Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Hôpital Marin d'Hendaye, AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de Neurologie, CHU Tours, Service de génétique médicale - CHU Rennes, CHU Pontchaillou [Rennes], Service de génétique médicale, CHU Rennes, Département de Pédiatrie [Rennes] = Paediatrics [Rennes], Service de neurologie, CHU Poitiers, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de neurologie, CHU Cahors, CHU Cahors, Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Institut des Neurosciences de Montpellier (INM), CHU Trousseau [Tours]
Rok vydání: 2019
Předmět:
Male
0301 basic medicine
Pediatrics
[SDV]Life Sciences [q-bio]
Auditory neuropathy
Inheritance Patterns
Disease
030105 genetics & heredity
SH3TC2
Medicine
Age of Onset
Genetics (clinical)
Aged
80 and over
High-Throughput Nucleotide Sequencing
Peripheral Nervous System Diseases
Inherited Peripheral Neuropathy
Middle Aged
Pathophysiology
Pedigree
3. Good health
Peripheral
Phenotype
NGS
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Original Article
Female
France
medicine.symptom
Adult
Charcot-Marie-Tooth
medicine.medical_specialty
lcsh:QH426-470
Genotype
Hearing loss
03 medical and health sciences
otorhinolaryngologic diseases
Genetics
Humans
Genetic Predisposition to Disease
In patient
Genetic Testing
Hearing Loss
Molecular Biology
Alleles
Genetic Association Studies
Aged
[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]
business.industry
Computational Biology
Original Articles
medicine.disease
lcsh:Genetics
030104 developmental biology
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Mutation
[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
neuropathy
business
Charcot‐Marie‐Tooth
Zdroj: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (9), ⟨10.1002/mgg3.839⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (9), pp.Université de Valence. ⟨10.1002/mgg3.839⟩
ISSN: 2324-9269
DOI: 10.1002/mgg3.839
Popis: International audience; 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.
Databáze: OpenAIRE
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