Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2003 Nov 8

PMID 14606043

Citations 23

Authors

Albena Jordanova

Florian P Thomas

Velina Guergueltcheva

Ivailo Tournev

Francisco A A Gondim

Borjana Ishpekova

Els De Vriendt

An Jacobs

Ivan Litvinenko

Neviana Ivanova

Borjan Buzhov

Peter De Jonghe

Ivo Kremensky

Vincent Timmerman

Affiliations

Soon will be listed here.

Abstract

Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and D1S2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.

Citing Articles

Lysosomal transmembrane protein 5: Impact on immune cell function and implications for immune-related deficiencies.

Sun P, Liao S, Sang P, Liu M, Yang J Heliyon. 2024; 10(17):e36705.

PMID: 39281638 PMC: 11401081. DOI: 10.1016/j.heliyon.2024.e36705.

A missense, loss-of-function variant in a patient with proximal-predominant motor neuropathy.

Forrest M, Meyer A, Laureano Figueroa S, Antonellis A Cold Spring Harb Mol Case Stud. 2022; 8(7).

PMID: 36307205 PMC: 9808560. DOI: 10.1101/mcs.a006246.

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.

Hines T, Tadenev A, Lone M, Hatton C, Bagasrawala I, Stum M J Anat. 2021; 241(5):1169-1185.

PMID: 34875719 PMC: 9170831. DOI: 10.1111/joa.13605.

Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases.

Morant L, Erfurth M, Jordanova A Genes (Basel). 2021; 12(10).

PMID: 34680913 PMC: 8536177. DOI: 10.3390/genes12101519.

Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.

Vinogradova E, Nikonov O, Nikonova E Biochemistry (Mosc). 2021; 86(Suppl 1):S12-S23.

PMID: 33827397 PMC: 7905983. DOI: 10.1134/S0006297921140029.

References

Mersiyanova I, Perepelov A, Polyakov A, Sitnikov V, Dadali E, Oparin R . A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000; 67(1):37-46. PMC: 1287099. DOI: 10.1086/302962. View

Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y . Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. Biochem Biophys Res Commun. 1993; 194(3):1317-22. DOI: 10.1006/bbrc.1993.1968. View

Ben Othmane K, Middleton L, Loprest L, Wilkinson K, Lennon F, Rozear M . Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics. 1993; 17(2):370-5. DOI: 10.1006/geno.1993.1334. View

Bergoffen J, Scherer S, Wang S, Scott M, Bone L, Paul D . Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993; 262(5142):2039-42. DOI: 10.1126/science.8266101. View

Adra C, Zhu S, Ko J, Guillemot J, Cuervo A, Kobayashi H . LAPTM5: a novel lysosomal-associated multispanning membrane protein preferentially expressed in hematopoietic cells. Genomics. 1996; 35(2):328-37. DOI: 10.1006/geno.1996.0364. View

Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D . Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996; 14(2):214-7. DOI: 10.1038/ng1096-214. View

IONASESCU V, Searby C, Sheffield V, Roklina T, Nishimura D, IONASESCU R . Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996; 5(9):1373-5. DOI: 10.1093/hmg/5.9.1373. View

Carey D . N-syndecan: structure and function of a transmembrane heparan sulfate proteoglycan. Perspect Dev Neurobiol. 1996; 3(4):331-46. View

Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S . Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology. 1997; 49(6):1630-5. DOI: 10.1212/wnl.49.6.1630. View

10.

Warner L, Mancias P, Butler I, McDonald C, Keppen L, Koob K . Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998; 18(4):382-4. DOI: 10.1038/ng0498-382. View

11.

Birouk N, Leguern E, Maisonobe T, Rouger H, Gouider R, Tardieu S . X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology. 1998; 50(4):1074-82. DOI: 10.1212/wnl.50.4.1074. View

12.

De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A . The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain. 1999; 122 ( Pt 2):281-90. DOI: 10.1093/brain/122.2.281. View

13.

Mastaglia F, Nowak K, Stell R, Phillips B, Edmondston J, Dorosz S . Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999; 67(2):174-9. PMC: 1736462. DOI: 10.1136/jnnp.67.2.174. View

14.

Pericak-Vance M, Speer M, Lennon F, West S, Menold M, Stajich J . Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics. 2000; 1(2):89-93. DOI: 10.1007/s100480050013. View

15.

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin J, Van Broeckhoven C . Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol. 2001; 49(2):245-9. DOI: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a. View

16.

Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S . Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001; 105(5):587-97. DOI: 10.1016/s0092-8674(01)00363-4. View

17.

Ismailov S, Fedotov V, Dadali E, Polyakov A, Van Broeckhoven C, Ivanov V . A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet. 2001; 9(8):646-50. DOI: 10.1038/sj.ejhg.5200686. View

18.

Kennerson M, Zhu D, Gardner R, Storey E, Merory J, Robertson S . Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. Am J Hum Genet. 2001; 69(4):883-8. PMC: 1226074. DOI: 10.1086/323743. View

19.

Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V . Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet. 2001; 69(4):889-94. PMC: 1226075. DOI: 10.1086/323742. View

20.

Baxter R, Ben Othmane K, Rochelle J, Stajich J, Hulette C, Hentati F . Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2001; 30(1):21-2. DOI: 10.1038/ng796. View