Title : Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth - Sevilla_2013_Clin.Genet_83_565 |
Author(s) : Sevilla T , Martinez-Rubio D , Marquez C , Paradas C , Colomer J , Jaijo T , Millan J , Palau F , Espinos C , Millan JM |
Ref : Clin Genet , 83 :565 , 2013 |
Abstract :
Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to investigate in depth the genetics and the associated clinical symptoms of this CMT form. HMSN-Russe probands share the same haplotype confirming that the HK1 g.9712G>C is a founder mutation, which arrived in Spain around the end of the 18th century. The clinical picture of HMSN-Russe is a progressive CMT disorder leading to severe weakness of the lower limbs and prominent distal sensory loss. Motor nerve conduction velocity was in the demyelinating or intermediate range. |
PubMedSearch : Sevilla_2013_Clin.Genet_83_565 |
PubMedID: 22978647 |
Gene_locus related to this paper: human-NDRG1 |
Mutation | R148X_human-NDRG1 |
Gene_locus | human-NDRG1 |
Disease | Hereditary motor and sensory neuropathy, LOM Type |
Sevilla T, Martinez-Rubio D, Marquez C, Paradas C, Colomer J, Jaijo T, Millan J, Palau F, Espinos C, Millan JM (2013)
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
Clin Genet
83 :565
Sevilla T, Martinez-Rubio D, Marquez C, Paradas C, Colomer J, Jaijo T, Millan J, Palau F, Espinos C, Millan JM (2013)
Clin Genet
83 :565