Genes (30)
Species:
human : 30 | |
| Human | FGD4 | 121512 | FYVE, RhoGEF and PH domain containing 4 | The identification of mutations in FGD4, encoding FGD4 or FRABIN (FGD1-related F-actin binding protein), in families with Charcot-Marie-Tooth type 4H We report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy | | Human | SBF2 | 81846 | SET binding factor 2 | Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork | | Human | PRX | 57716 | periaxin | Title:Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.|Association:Not Found|Conclusion:We conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. Clinical overlap with demyelinating Charcot-Marie-Tooth disease type 1 (see CMT1B, {118200}), but much more severe phenotype Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease | | Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 | A novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family as cause of Charcot-Marie-Tooth disease type 4C4 Two different point mutations, a novel R191X nonsense and a L239F missense mutation were detected in the GDAP1 gene causing Charcot-Marie-Tooth neurpathy a novel GDAP1 mutation in an Old Order Amish family with autosomal recessive Charcot-Marie-Tooth disease A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease Title:Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.|Association:Not Found|Conclusion:Not Found Title:|Association:Not Found|Conclusion:Not Found Title:Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.|Association:Not Found|Conclusion:Not Found The patient of Charcot-Marie-Tooth with pyramidal feature has GDAP1 mutation(M116R) Data show that the mutations in the GDAP1 gene are a common cause of early-onset Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) This study shows the variability of the phenotype associated with mutations in GDAP1 gene in terms of associated signs and severity of Charcot-Marie-Tooth disease | | Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | Allelic disorder to Charcot-Marie-Tooth disease type 2D (CMT2D, {601472}), but distinguished by less severe distal sensory involvement | | Human | HSPB8 | 26353 | heat shock 22kDa protein 8 | Charcot-Marie-Tooth disease type 2L (CMT2L, {608673}) is an allelic disorder with an overlapping phenotype | | Human | KIF1B | 23095 | kinesin family member 1B | Title:Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.|Association:Not Found|Conclusion:We conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. | | Human | SPTLC1 | 10558 | serine palmitoyltransferase, long chain base subunit 1 | Phenotypic overlap with Charcot-Marie-Tooth disease 2B (CMT2B, {600882}) | | Human | NDRG1 | 10397 | N-myc downstream regulated 1 | Title:Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.|Association:Not Found|Conclusion:Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Two disease causing mutations in NDRG1 in Charcot-Marie-Tooth Disease patients Title:Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.|Association:Not Found|Conclusion:We conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. | | Human | KIF20A | 10112 | kinesin family member 20A | This gene is not involved in Charcot-Marie-Tooth disease | | Human | MFN2 | 9927 | mitofusin 2 | Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations study reports a novel MFN2 mutation shared by two apparently unrelated Charcot-Marie-Tooth families originating from the same area in Southern Italy Allelic disorder to Charcot-Marie-Tooth disease type 2A2 (CMT2A2, {609260}) findings suggest that mutations in the MFN2 gene are an important causative gene underlying Korean patients with Charcot-Marie-Tooth neuropathy type 2 | | Human | LITAF | 9516 | lipopolysaccharide-induced TNF factor | The expression of SIMPLE is reported in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in Charcot-Marie-Tooth neuropathy type 1C the potential E3 ubiquitin ligase activity of SIMPLE, alteration in its interactions with NEDD4 or TSG101, or changes in its properties as a clathrin coat adaptor may underlie the pathogenesis of Charcot-Marie-Tooth disease This study identified a LITAF/SIMPLE substitution (T49M), absent in 1000 control chromosomes, but which was thought to be a polymorphism in Charcot-Marie-Tooth neuropathy | | Human | MTMR2 | 8898 | myotubularin related protein 2 | Title:A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.|Association:Y|Conclusion:Not Found | | Human | YARS | 8565 | tyrosyl-tRNA synthetase | identification of two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with dominant intermediate Charcot-Marie-Tooth neuropathy | | Human | RAB7A | 7879 | RAB7A, member RAS oncogene family | Mutations in this protein cause Charcot-Marie-Tooth type 2B neuropathy | | Human | TNNT1 | 7138 | troponin T type 1 (skeletal, slow) | Report adaptation by alternative RNA splicing of slow troponin T isoforms in type 1 but not type 2 Charcot-Marie-Tooth disease | | Human | SOX10 | 6663 | SRY (sex determining region Y)-box 10 | Phenotype combines features of Hirschsprung disease ({142623)}, Charcot-Marie-Tooth disease type 1 (CMT1B, {118200}), Waardenburg-Shah syndrome ({277580}), and central dysmyelinating leukodystrophy ({312080}) | | Human | PRPH | 5630 | peripherin | Title:Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.|Association:Not Found|Conclusion:We conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. | | Human | PRB4 | 5545 | proline-rich protein BstNI subfamily 4 | Two heterozygous mutations of po gene were identified: S63F and N131Y in Charcot-Marie-Tooth disease | | Human | PMP22 | 5376 | peripheral myelin protein 22 | Title:Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1|Association:Not Found|Conclusion:This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature. Deletions in both PMP22 alleles caused Charcot-Marie-Tooth disease with a Dejerine-Sottas disease phenotype Allelic disorders with overlapping phenotypes include Charcot-Marie-Tooth disease type 1 (CMT1B, {118200} and CMT1A, {118220}) and Dejerine-Sottas syndrome (DSS, {145900}) Clinical overlap with demyelinating Charcot-Marie-Tooth disease type 1 (see CMT1B, {118200}), but much more severe phenotype Title:Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.|Association:Not Found|Conclusion:We conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. Allelic disorder to Charcot-Marie-Tooth disease type 1A ({118220}) Title:Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.|Association:Not Found|Conclusion:DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases. | | Human | NEFL | 4747 | neurofilament, light polypeptide | results argue against an obvious genotype-phenotype correlation regarding Charcot-Marie-Tooth disease onset, degree of muscle weakness, and nerve conduction slowing caused by NEFL mutations out of frame mutation does not result in Charcot-Marie-Tooth disease type 2E Eight novel sequence variations have been identified in the NF-L gene in patients with Charcot-Marie-Tooth phenotype: 5 variants are polymorphisms, including 3 single nucleotide polymorphisms (SNPs), and 3 other missense mutations have been detected Title:|Association:Not Found|Conclusion:Not Found The mechanism of massive aggregate formation of NF-L Charcot-Marie-Tooth disease mutants (P22S and P22T) is revealed, as well as the effect of phosphorylation at the head domain on aggregate alleviation | | Human | MPZ | 4359 | myelin protein zero | Title:Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequencefor mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.|Association:Not Found|Conclusion:DHPLC increases the efficiency and sensitivity of mutation screening in genetically heterogeneous diseases. Title:|Association:Y|Conclusion:Not Found A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin Clinical overlap with demyelinating Charcot-Marie-Tooth disease type 1 (see CMT1B, {118200}), but much more severe phenotype Title:Charcot-Marie-Tooth disease and related neuropathies: mutation distribution andgenotype-phenotype correlation.|Association:Not Found|Conclusion:We conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy. Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine was performed Title:The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.|Association:Y|Conclusion:Not Found A patient with Charcot Marie Tooth Disease, Type Ib had a MPZ mutation with A-C transversion (nucleotide: 116, codon: 10, histidine-to-proline) Title:Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1|Association:Not Found|Conclusion:This study expands the number of CMT1 associated MPZ mutation and suggests that analysis of the coding sequence of MPZ should be performed in all CMT patients without CMT1A duplication to clarify their disease nature. Title:Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.|Association:Y|Conclusion:Not Found Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis Allelic disorders with overlapping phenotypes include Charcot-Marie-Tooth disease type 1 (CMT1B, {118200} and CMT1A, {118220}) and Dejerine-Sottas syndrome (DSS, {145900}) | | Human | MPO | 4353 | myeloperoxidase | Title:An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).|Association:Not Found|Conclusion:The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features. | | Human | LMNA | 4000 | lamin A/C | The autosomal recessive axonal Charcot-Marie-Tooth type 2 due to mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2 Title:|Association:Not Found|Conclusion:Not Found LMNA represents the first gene implicated in both recessive and dominant forms of Charcot-Marie-Tooth disease homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa | | Human | HSPB1 | 3315 | heat shock 27kDa protein 1 | missense mutation in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1, also called HSP27) that segregates in a family with Charcot-Marie-Tooth disease Allelic disorder to Charcot-Marie-Tooth disease 2F (CMT2F, {606595}) Title:[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease]|Association:Not Found|Conclusion:To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes. Title:Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.|Association:Not Found|Conclusion:To our knowledge, this is the first report of an Hsp27 mutation in the People's Republic of China. The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously. A mutation of Hsp27 may be uncommon in Chinese patients with CMT disease. |
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