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Cenni C, Mansard L, Blanchet C, et al. When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report. Diagnostics (Basel). 2021;11(9)doi: 10.3390/diagnostics11091636.
Cenni, C., Mansard, L., Blanchet, C., Baux, D., Vaché, C., Baudoin, C., Moclyn, M., Faugère, V., Mondain, M., Jeziorski, E., Roux, A. F., & Willems, M. (2021). When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report. Diagnostics (Basel, Switzerland), 11(9), . https://doi.org/10.3390/diagnostics11091636
Cenni, Camille, et al. "When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report." Diagnostics (Basel, Switzerland) vol. 11,9 (2021). doi: https://doi.org/10.3390/diagnostics11091636
Cenni C, Mansard L, Blanchet C, Baux D, Vaché C, Baudoin C, Moclyn M, Faugère V, Mondain M, Jeziorski E, Roux AF, Willems M. When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report. Diagnostics (Basel). 2021 Sep 07;11(9). doi: 10.3390/diagnostics11091636. PMID: 34573976; PMCID: PMC8465614.
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Diagnostics (Basel). 2021 Sep 07;11(9). doi: 10.3390/diagnostics11091636.

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.

Diagnostics (Basel, Switzerland)

Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux, Christel Vaché, Corinne Baudoin, Mélodie Moclyn, Valérie Faugère, Michel Mondain, Eric Jeziorski, Anne-Françoise Roux, Marjolaine Willems

Affiliations

  1. Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Université de Montpellier, 34090 Montpellier, France.
  2. Laboratoire de Génétique Moléculaire, CHU Montpellier, Université de Montpellier, 34090 Monpellier, France.
  3. Service ORL, CHU Montpellier, Université de Montpellier, 34090 Montpellier, France.
  4. Centre National de Référence Maladies Rares "Affections Sensorielles Génétiques", CHU Montpellier, Université de Montpellier, 34090 Montpellier, France.
  5. INM, Université de Montpellier, INSERM U1298, 34090 Montpellier, France.
  6. Service de Pédiatrie Générale, Infectiologie et Immunologie Clinique, CHU Montpellier, Université de Montpellier, 34090 Montpellier, France.

PMID: 34573976 PMCID: PMC8465614 DOI: 10.3390/diagnostics11091636

Abstract

We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child's mother (and some of her relatives) presented with moderate thrombocytopenia and adulthood-onset HL. The child's father (and some of his relatives) presented with adult-onset HL. An HL panel analysis, completed by whole exome sequencing, was performed in this complex family. We identified three pathogenic variants in three different genes:

Keywords: ACTG1; MYH9; familial hearing loss; multiple diagnoses; non-syndromic hearing loss

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