EGR2 Mutations in CMT

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Neurogenetics. 2007 Aug 24

Functional, histopathologic and natural history study of neuropathy

associated with EGR2 mutations.

Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM,

Mancias P, Papasozomenos SC, G, Keppen L, Daentl D, Brophy

PJ, Lupski JR.

Department of Molecular and Human Genetics, Baylor College of

Medicine, One Baylor Plaza, Rm604B, Houston, TX, 77030, USA.

Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth

disease and related inherited peripheral neuropathies. We

ascertained ten consecutive patients with various EGR2 mutations,

report a novel de novo mutation, and provide longitudinal clinical

data to characterize the natural history of the peripheral

neuropathy.

We confirmed that respiratory compromise and cranial nerve

dysfunction are commonly associated with EGR2 mutations and can be

useful in guiding molecular diagnosis. We also contrast

morphological studies in the context of the I268N homozygous

recessive mutation affecting the NAB repressor binding site and the

R359W dominant-negative mutation in the zinc-finger domain.