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A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype

Authors

  • Carlos Casasnovas MD, PhD,

    Corresponding author
    1. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
    • Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
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  • Isabel Banchs BHSc,

    1. Molecular Genetic Diagnosis Center, Institut de Investigacion Biomèdica de Bellvitge, Barcelona, Spain
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  • Laura De Jorge BPharm,

    1. Molecular Genetic Diagnosis Center, Institut de Investigacion Biomèdica de Bellvitge, Barcelona, Spain
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  • Maria Antónia albertí MD,

    1. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
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  • Yolanda Martínez–Campo AST,

    1. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
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  • Mónica Povedano MD,

    1. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
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  • Jordi Montero MD, PhD,

    1. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, c/ Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
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  • Victor Volpini MD, PhD

    1. Molecular Genetic Diagnosis Center, Institut de Investigacion Biomèdica de Bellvitge, Barcelona, Spain
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Abstract

Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.Methods: Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities. Investigations of microsatellites, using polymorphic repeat markers flanking the gene, and multiplex ligation-dependent probe amplification (MLPA) were performed for molecular studies. Results: The initial study of microsatellites did not detect any change, but MLPA demonstrated a small deletion of exon 5 in the PMP22 gene. Conclusion: Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP with a normal microsatellite study. Muscle Nerve 45: 135–138, 2012

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