Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth disease

Abstract

Patients with axonal Charcot-Marie-Tooth disease type 2 neuropathy without mutations in more common genes should undergo investigation for DNM2 pleckstrin homology.

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

“…Genes in which mutations have been associated with the AD axonal form of the disease (CMT2) include MPZ, 9 NEFL, 10 GARS, 11 RAB7, 12 MFN2, 13 HSPB1, 14 GDAP1, 15 HSPB8 16 and DNM2. 17 Recently, two novel LRSAM1 mutations were associated with axonal CMT neuropathies. 18,19 The p.Glu638AlafsX7 mutation has been reported in a family with AR axonal CMT and the p.Leu708ArgfsX28 mutation has been identified in a family with AD axonal CMT (CMT2).…”

Clinical utility gene card for: Centronuclear and myotubular myopathies

“…A distinct subset of mutations cause autosomal-dominant CharcotMarie-Tooth neuropathy (CMTDIB and CMT2M). [21][22][23] BIN1: Five homozygous mutations have been reported in patients with CNM2 including three missense changes (p.K35N, p.D151N and p.R154Q) and two nonsense mutations (p.Q573X and K575X). [24][25][26] RYR1: To date, RYR1-related CNM has been mainly associated with compound heterozygosity for recessive RYR1 mutations, typically a missense mutation and a mutation predicted to reduce the amount of the functional RyR1 protein.…”

Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease

“…Mutations had been identified in DNM2 gene for DI-CMTB [5]. From the previous researches, DNM2 mutations in DI-CMTB mainly located in its PH domain [5,6,16,17].…”

“…In 2005, the DNM2 gene was first reported to be associ ated with CMT [5]. Since then, three point mutations and two sequence deletions in the DNM2 gene have been described in DNM2 related CMT disease [5,6]. But the full spectrum of genetic changes leading to this disease is yet unknown.…”