Condition: Dejerine-Sottas Disease (disorder)


rs104894161 in EGR2 gene and Dejerine-Sottas Disease (disorder) PMID 10371530 1999 A de novo missense mutation (Arg359Trp) in the alpha-helix of the first zinc-finger domain of the EGR2 transcription factor was identified in a patient diagnosed with a clinical phenotype consistent with DSS.

rs104894826 in GJB1 gene and Dejerine-Sottas Disease (disorder) PMID 15947997 2005 Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.

rs121913585 in MPZ gene and Dejerine-Sottas Disease (disorder) PMID 9222756 1997 Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.

PMID 11835375 2002 Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

PMID 11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

PMID 9452091 1998 Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.

PMID 9452055 1998 De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.

PMID 12497641 2003 Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

PMID 7506095 1993 De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

PMID 11596785 2001 The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.

PMID 9187667 1997 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

PMID 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PMID 8816708 1996 Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

PMID 8630052 1996 A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

PMID 9633821 1998 In the P0 gene a Ser78Leu mutation was found in one family with severe CMT1 and a de novo Tyr82Cys mutation was found in one DSS patient.

rs104894617 in PMP22 gene and Dejerine-Sottas Disease (disorder) PMID 8995589 1997 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.

PMID 7675244 1995 Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.

PMID 12090401 2002 Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.

PMID 11438991 2001 Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.

PMID 9544841 1998 Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.

PMID 9004143 1996 Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.

PMID 8275092 1993 Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

PMID 10663978 2000 Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.

PMID 9452053 1998 Déjérine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.

PMID 9585367 1998 "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible ""hot spot"" on Ser72."

PMID 8252046 1993 Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.

PMID 10211478 1999 Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.

PMID 7728152 1995 Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

PMID 9187667 1997 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

PMID 9055797 1997 Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.

PMID 9633821 1998 Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

PMID 9544841 1998 We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150.

rs104894708 in PRX gene and Dejerine-Sottas Disease (disorder) PMID 11157804 2001 A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

PMID 26059842 2016 Through the use of whole-exome sequencing we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present.

PMID 15197604 2004 Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

PMID 21079185 2010 Four novel cases of periaxin-related neuropathy and review of the literature.

PMID 22847150 2012 Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

PMID 11133365 2001 Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

PMID 24078732 2013 Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.