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Familial clustering and genetic heterogeneity in Meniere's disease

Authors

  • T. Requena,

    1. Otology & Neurotology Group CTS495, Human DNA Variability Department - Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/ Junta de Andalucía (GENYO), Granada, Spain
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  • J.M. Espinosa-Sanchez,

    1. Otology & Neurotology Group CTS495, Human DNA Variability Department - Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/ Junta de Andalucía (GENYO), Granada, Spain
    2. Department of Otorhinolaryngology, Hospital San Agustin, Linares, Spain
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  • S. Cabrera,

    1. Otology & Neurotology Group CTS495, Human DNA Variability Department - Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/ Junta de Andalucía (GENYO), Granada, Spain
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  • G. Trinidad,

    1. Division of Otoneurology, Department of Otorhinolaryngology, Complejo Hospitalario Badajoz, Badajoz, Spain
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  • A. Soto-Varela,

    1. Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain
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  • S. Santos-Perez,

    1. Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain
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  • R. Teggi,

    1. Department of Otolaryngology, San Raffaelle Scientific Institute, Milan, Italy
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  • P. Perez,

    1. Department of Otorhinolaryngology, Hospital Cabueñes, Gijón, Spain
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  • A. Batuecas-Caletrio,

    1. Department of Otolaryngology, Hospital Universitario Salamanca, Salamanca, Spain
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  • J. Fraile,

    1. Department of Otolaryngology, Hospital Miguel Servet, Zaragoza, Spain
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  • I. Aran,

    1. Department of Otolaryngology, Complexo Hospitalario de Pontevedra, Pontevedra, Spain
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  • E. Martin,

    1. Department of Otolaryngology, Hospital Universitario de Getafe, Madrid, Spain
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  • J. Benitez,

    1. Department of Otolaryngology, Hospital Universitario de Gran Canaria Dr Negrin, Las Palmas, Spain
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  • N. Pérez-Fernández,

    1. Department of Otolaryngology, Clinica Universidad de Navarra, Pamplona, Spain
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  • J.A. Lopez-Escamez

    Corresponding author
    1. Otology & Neurotology Group CTS495, Human DNA Variability Department - Centro de Genómica e Investigación Oncológica, Pfizer/Universidad de Granada/ Junta de Andalucía (GENYO), Granada, Spain
    2. Department of Otolaryngology, Hospital de Poniente, Almería, Spain
    • Corresponding author: Dr Jose A. Lopez-Escamez, Otology & Neurotology Group CTS495, GENYO - Centro de Genómica e Investigación Oncológica – Pfizer/Universidad de Granada/ Junta de Andalucia, Avda de la Ilustracion, 114 18016 Granada, Spain.

      Tel.: +34 958 715 500 160;

      fax: +34 958 637 071;

      e-mail: antonio.lopezescamez@genyo.es

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  • The authors declare that they have no conflict of interest.

Abstract

The aims of this study were to estimate the prevalence of familial cases in patients with Meniere's disease (MD) and to identify clinical differences between sporadic and familial MD. We recruited 1375 patients with definite MD according to the American Academy of Otolaryngology-Head and Neck Surgery criteria, obtaining the familial history of hearing loss or episodic vertigo by direct interview or a postal survey in 1245 cases in a multicenter study. Familial clustering was estimated by the recurrence risk ratio in siblings (λs) and offspring (λo) using intermediate and high prevalence values for MD in European population. A total of 431 patients (34%) reported a familial history of hearing loss or recurrent vertigo and 133 patients had a relative with possible MD. After clinical reevaluation, 93 relatives in 76 families were diagnosed of definite MD (8.4%), including three pairs of monozygotic twins. λs and λo were 16–48 and 4–12, respectively. We observed genetic heterogeneity, but most families had an autosomal dominant inheritance with anticipation. No clinical differences were found between sporadic and familial MD, except for an early onset in familial cases. We may conclude that MD has a strong familial aggregation and that sporadic and familial MDs are clinically identical.

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