Literature DB >> 1552545

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

P Raeymaekers1, V Timmerman, E Nelis, W Van Hul, P De Jonghe, J J Martin, C Van Broeckhoven.   

Abstract

We have previously shown a duplication in 17p11.2 with probe pVAW409R3 (D17S122) in 12 families with hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1). In this study we aimed to estimate the size of the duplication using additional polymorphic DNA markers located in 17p11.2-p12. Two other 17p11.2 markers, pVAW412R3 (D17S125) and pEW401 (D17S61), were found to be duplicated in all HMSN I patients tested. Furthermore, all HMSN I patients showed the same duplication junction fragment with probe pVAW409R3. On the genetic map the duplicated markers span a minimal distance of 10 cM while on the physical map they are present in the same NotI restriction fragment of 1150 kb. The discrepancy between the genetic and physical map distances suggests that the 17p11.2 region is extremely prone to recombinational events. The high recombination rate may be a contributing factor to the genetic instability of this chromosomal region.

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Year:  1992        PMID： 1552545      PMCID： PMC1015812          DOI： 10.1136/jmg.29.1.5

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  25 in total

1.  Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors:  P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.

Authors:  J C Defesche; J E Hoogendijk; M de Visser; O de Visser; P A Bolhuis
Journal:  Neurology       Date:  1990-09       Impact factor: 9.910

3.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors:  J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal:  Cell       Date:  1991-07-26       Impact factor: 41.582

4.  Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

Authors:  J M Vance; D Barker; L H Yamaoka; J M Stajich; L Loprest; W Y Hung; K Fischbeck; A D Roses; M A Pericak-Vance
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

5.  Genomic sequencing.

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

6.  Genetic aspects of hereditary motor and sensory neuropathy (types I and II).

Authors:  A E Harding; P K Thomas
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318

7.  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

8.  Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.

Authors:  P J McAlpine; T E Feasby; A F Hahn; L Komarnicki; S James; C Guy; M Dixon; S Qayyum; J Wright; G Coopland
Journal:  Genomics       Date:  1990-07       Impact factor: 5.736

9.  Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.

Authors:  P Raeymaekers; P De Jonghe; L Swerts; L Muylle; J Gheuens; J J Martin; C Van Broeckhoven; A Vandenberghe
Journal:  J Neurol Sci       Date:  1988-12       Impact factor: 3.181

10.  Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.

Authors:  P I Patel; C Garcia; R Montes de Oca-Luna; R I Malamut; B Franco; S Slaugenhaupt; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025
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  26 in total

Review 1.  Charcot-Marie-Tooth disease type 1.

Authors:  S Malcolm
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

2.  A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

Authors:  R Navon; B Seifried; N S Gal-On; M Sadeh
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

3.  Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

Authors:  M E Hodes; K Woodward; N B Spinner; B S Emanuel; A Enrico-Simon; J Kamholz; D Stambolian; E H Zackai; V M Pratt; I T Thomas; K Crandall; S R Dlouhy; S Malcolm
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

4.  Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

Authors:  V Timmerman; B Rautenstrauss; L T Reiter; T Koeuth; A Löfgren; T Liehr; E Nelis; K D Bathke; P De Jonghe; H Grehl; J J Martin; J R Lupski; C Van Broeckhoven
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

Review 5.  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

6.  PMP22 expression in dermal nerve myelin from patients with CMT1A.

Authors:  Istvan Katona; Xingyao Wu; Shawna M E Feely; Stephanie Sottile; Carly E Siskind; Lindsey J Miller; Michael E Shy; Jun Li
Journal:  Brain       Date:  2009-05-15       Impact factor: 13.501

7.  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

8.  High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.

Authors:  H Rouger; E LeGuern; R Gouider; S Tardieu; N Birouk; M Gugenheim; P Bouche; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

9.  Detection of tandem duplications and implications for linkage analysis.

Authors:  T C Matise; A Chakravarti; P I Patel; J R Lupski; E Nelis; V Timmerman; C Van Broeckhoven; D E Weeks
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

10.  Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.

Authors:  Jong Rak Choi; Woon Hyoung Lee; Il Nam Sunwoo; Eun Kyung Lee; Chang Hoon Lee; Jong Baeck Lim
Journal:  Yonsei Med J       Date:  2005-06-30       Impact factor: 2.759
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