A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

“…Genetic evaluation showed 6 mutations in MFN2 (p.Arg259His; p.Ala100Phe; p.Arg280His; p.Met747Thr; p.Ala738Val; p.Arg94Gln), 4 mutations in HSPB1 (p.Arg140Gly; p.Thr180Ile; p.Arg36Leu; p.Pro7Arg), 2 mutations in BSCL2 (p.N88S; p.S90L), 3 mutations in GJB1 (Arg220stop; p.Trp3Gly; p.Pro158Ala), 1 mutation in MPZ (p.Arg98His). Two mutations were novel while other variants have been already described [8,36,2,13,7,30,3,10,34,11,4,14,27,26]. The mutations not previously reported were excluded in 400 Italian normal control chromosomes.…”

“…Furthermore mutations in HSPB8, HSPB1, GARS and BCSL2 may cause various clinical phenotypes including CMT2, dHMN or CMT2/dHMN (a predominantly motor CMT2 with slight neurophysiological and/or pathological sensory involvement) [7,31,24,1,10,11].…”

In silico evaluation of human small heat shock protein HSP27: Homology modeling, mutation analyses and docking studies

“…In particular, we focused our attention on a series of mutations, which were previously reported in literature (see Table 1), [17][18][19][20][21][22] falling along the overall heat-shock protein sequence.…”

A Family with Distal Hereditary Motor Neuropathy and a K141Q Mutation of Small Heat Shock Protein <i>HSPB1</i>

“…Since the first report of HSPB1 mutation (5), 16 different autosomal dominant mutations and one autosomal recessive mutation have been reported in families with CMT2 and dHMN (6)(7)(8)(9)(10)(11)(12). HSP27 is one of a stress-induced chaperone protein and forms oligomers to maintain a misfolded protein in a refolding-competent state.…”