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Human Molecular Genetics, 2001, Vol. 10, No. 4 415-421
© 2001 Oxford University Press

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease

Angèle Guilbot1,+,§, Anna Williams4,+, Nicole Ravisé1, Christophe Verny1, Alexis Brice1,2,3, Diane L. Sherman4, Peter J. Brophy4, Eric LeGuern1,2, Valérie Delague5,+, Corinne Bareil6, André Mégarbané5 and Mireille Claustres6

1INSERM U289, 2Fédération de Neurologie, 3Consultation de Génétique Médicale, Hôpital de la Salpêtrière, 47 Boulevard de l’Hôpital, Paris, France, 4Department of Preclinical Veterinary Sciences, University of Edinburgh, UK, 5Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon and 6Laboratoire de Génétique Moléculaire, Institut de Biologie, Montpellier, France

Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies characterized by chronic distal weakness with progressive muscular atrophy and sensory loss in the distal extremities. Inheritance can be autosomal dominant, X-linked or autosomal recessive (ARCMT). Recently, a locus responsible for a demyelinating form of ARCMT disease, named CMT4F, has been mapped on 19q13 in a large consanguineous Lebanese family. L- and S-periaxin are proteins of myelinating Schwann cells and homozygous periaxin-null mice display extensive demyelination of myelinated fibers in the peripheral nervous system, which suggests that the periaxin gene is a good candidate gene for an ARCMT disease. The human gene encoding the periaxins (PRX) was mapped to 19q13, in the CMT4F candidate interval. After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese family which cosegregated with CMT. Histopathological and immunohistochemical analysis of a sural nerve biopsy of one patient revealed common features with the mouse mutant and the absence of L-periaxin from the myelin sheath. These data confirm the importance of the periaxin proteins to normal Schwann cell function and substantiate the utility of the periaxin-null mouse as a model of ARCMT disease.

+ These authors contributed equally to this work

§ To whom correspondence should be addressed. Tel: +33 1 42 16 22 07; Fax: +33 1 44 24 36 58; Email: guilbot@ccr.jussieu.fr


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