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EGR2-related benign Dejerine-Sottas neuropathy

作者:He Lv 等 日期:2019-11-23 浏览量:265

第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文(128)

Department of Neurology, Peking University First Hospital, Beijing, China

He Lv, Jun Fu, Rui Wu, Wei Zhang, Zhaoxia Wang, Yuehuan Zuo,Jing Liu, Yun Yuan,

The early growth response 2 gene (EGR2) mutations are associated with a group of hereditary myelinopathies, including congenital hypomyelinating neuropathy or Dejerine-Sottas neuropathy and autosomal dominant Charcot-Marie-Tooth disease type 1D. Two unrelated patients were identified with EGR2 mutations in a series of 194 (1.003%) Chinese CMT patients. Both of them exhibited early onset neuropathy with motor retardation. Muscle weakness and atrophy was predominately in the distal part of the limbs. CMTNS showed moderate to severe scores (22,11). Nerve conduction studies revealed absent sensory nerve responses in his upper and lower extremities. The motor nerve conduction velocity (MNCV) of median nerve was moderately decrease and amplitudes of compound motor action potential were markedly reduced. Sural nerve biopsy revealed axons with very thin myelin and numerous onion bulbs. No acute axon degeneration and regeneration cluster were found in both patients. The c.1234G>A,p.E412K mutation in EGR2 gene was found in both patients. Our report shows that EGR2 mutations were rare in Chinese patients with slow progression.