Literature DB >> 2220808

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

V Timmerman1, P Raeymaekers, P De Jonghe, G De Winter, L Swerts, K Jacobs, J Gheuens, J J Martin, A Vandenberghe, C Van Broeckhoven.   

Abstract

Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.

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Year:  1990        PMID： 2220808      PMCID： PMC1683809     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  21 in total

1.  Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Authors:  P I Patel; B Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; D H Ledbetter; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

2.  Genetic and clinical aspects of Charcot-Marie-Tooth's disease.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

3.  Genetic analysis of NF1: identification of close flanking markers on chromosome 17.

Authors:  P R Fain; D F Barker; D E Goldgar; E Wright; K Nguyen; J Carey; J Johnson; J Kivlin; H Willard; C Mathew
Journal:  Genomics       Date:  1987-12       Impact factor: 5.736

4.  Isolation and mapping of a polymorphic DNA sequence pHHH202 on chromosome 17 [D17S33].

Authors:  M Hoff; Y Nakamura; T Holm; L Ballard; P O'Connell; M Leppert; G M Lathrop; J M Lalouel; R White
Journal:  Nucleic Acids Res       Date:  1988-01-25       Impact factor: 16.971

5.  A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13.

Authors:  C E Schwartz; E McNally; L Leinwand; M H Skolnick
Journal:  Cytogenet Cell Genet       Date:  1986

6.  Neuroepidemiology.

Authors:  J F Kurtzke
Journal:  Ann Neurol       Date:  1984-09       Impact factor: 10.422

7.  Genomic sequencing.

Authors:  G M Church; W Gilbert
Journal:  Proc Natl Acad Sci U S A       Date:  1984-04       Impact factor: 11.205

8.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

9.  Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Authors:  T D Bird; J Ott; E R Giblett
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

10.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025
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  15 in total

1.  Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques.

Authors:  W Van Hul; H Backhovens; G Van Camp; P Stinissen; M Cruts; A Wehnert; C Van Broeckhoven
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

2.  Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

Authors:  R V Lebo; E D Lynch; T D Bird; M S Golbus; D F Barker; P O'Connell; P F Chance
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

3.  Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).

Authors:  C M Gabriel; N A Gregson; N W Wood; R A C Hughes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-02       Impact factor: 10.154

4.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

5.  The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Authors:  K Inoue; K Dewar; N Katsanis; L T Reiter; E S Lander; K L Devon; D W Wyman; J R Lupski; B Birren
Journal:  Genome Res       Date:  2001-06       Impact factor: 9.043

6.  Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.

Authors:  Carlos G Vanoye; Masayoshi Sakakura; Rose M Follis; Alexandra J Trevisan; Malathi Narayan; Jun Li; Charles R Sanders; Bruce D Carter
Journal:  J Biol Chem       Date:  2019-06-18       Impact factor: 5.157

Review 7.  The PMP22 gene and its related diseases.

Authors:  Jun Li; Brett Parker; Colin Martyn; Chandramohan Natarajan; Jiasong Guo
Journal:  Mol Neurobiol       Date:  2012-12-07       Impact factor: 5.590

8.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

9.  Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Authors:  A Brice; N Ravisé; G Stevanin; M Gugenheim; P Bouche; C Penet; Y Agid
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

10.  Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Authors:  H Azzedine; A Bolino; T Taïeb; N Birouk; M Di Duca; A Bouhouche; S Benamou; A Mrabet; T Hammadouche; T Chkili; R Gouider; R Ravazzolo; A Brice; J Laporte; E LeGuern
Journal:  Am J Hum Genet       Date:  2003-04-08       Impact factor: 11.025
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