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Article Dans Une Revue International Journal of Molecular Sciences Année : 2021

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

Luke Mansard
David Baux
Christel Vaché
Catherine Blanchet
  • Fonction : Auteur
Isabelle Meunier
  • Fonction : Auteur
Marjolaine Willems
Valérie Faugère
  • Fonction : Auteur
Corinne Baudoin
  • Fonction : Auteur
Melody Moclyn
  • Fonction : Auteur
Julie Bianchi
  • Fonction : Auteur
Helene Dollfus
  • Fonction : Auteur
Brigitte Gilbert-Dussardier
  • Fonction : Auteur
Delphine Dupin-Deguine
  • Fonction : Auteur
Dominique Bonneau
  • Fonction : Auteur
Isabelle Drumare
  • Fonction : Auteur
Sylvie Odent
  • Fonction : Auteur
Xavier Zanlonghi
  • Fonction : Auteur
Mireille Claustres
  • Fonction : Auteur
Vasiliki Kalatzis
Anne-Françoise Roux

Résumé

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two major causal genes involved in Usher type I, the most severe form, and type II, the most frequent form, respectively. Massively parallel sequencing was performed on a cohort of patients in the context of a molecular diagnosis to confirm clinical suspicion of Usher syndrome. We report here 231 pathogenic MYO7A and USH2A genotypes identified in 73 Usher type I and 158 Usher type II patients. Furthermore, we present the ACMG classification of the variants, which comprise all types. Among them, 68 have not been previously reported in the literature, including 12 missense and 16 splice variants. We also report a new deep intronic variant in USH2A. Despite the important number of molecular studies published on these two genes, we show that during the course of routine genetic diagnosis, undescribed variants continue to be identified at a high rate. This is particularly pertinent in the current era, where therapeutic strategies based on DNA or RNA technologies are being developed.
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Dates et versions

hal-03503346 , version 1 (28-12-2021)

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Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, et al.. The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩. ⟨hal-03503346⟩
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