A novel mutation in the dynamin 2 gene in a CMT patient:Clinical and pathologica

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Neuromuscul Disord. 2008 Apr 2

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type

2 patient: Clinical and pathological findings.

Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P,

Guicheney P.

INSERM, U582, Institut de Myologie, Paris (F-75013), France; UPMC

Univ Paris 06, UMR_S582, IFR14 Paris, (F-75013), France.

Mutations in dynamin 2 (DNM2) have been associated with autosomal

dominant centronuclear myopathy, dominant intermediate Charcot-Marie-

Tooth (CMT) type B and CMT2. Here, we report a novel DNM2 mutation in

the Pleckstrin homology domain of DNM2 (p.K559del) in a patient with

an axonal length-dependent sensorimotor polyneuropathy predominantly

affecting the lower limbs. Neuropathy is associated with congenital

cataracts, ophthalmoparesis, ptosis and neutropenia. There was no

evidence of a skeletal myopathy on EMG or muscle biopsy. We suggest

that this constellation of clinical features can help the diagnosis

and selection of patients for direct DNM2 genetic analysis.