Literature DB >> 7666403

Inheritance of CMT1A duplication from a mosaic father.

E Sorour1, P Thompson, J MacMillan, M Upadhyaya.   

Abstract

We describe a case with molecular duplication of chromosome 17 (p11.2-p12) whose duplicated chromosome was inherited from a mosaic father. The patient has clinical manifestations consistent with Charcot-Marie-Tooth disease type 1A (CMT1A), while the mosaic father has minimal findings of CMT1A. The father was found to be homozygous with DNA markers VAW409R3A (D17S122) and p132G8RI (PMP-22) which are duplicated in CMT1A cases. Fluorescence in situ hybridisation (FISH) analysis with YAC clone 49H7 confirmed the duplication in the affected patient and diagnosed the mosaicism in his father. These findings based on clinical diagnosis and FISH analysis suggest that the mosaicism may have occurred early in embryogenesis leading to the disease in the father. This is the only reported case of CMT1A with transmission from a mildly affected mosaic father.

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Year:  1995        PMID： 7666403      PMCID： PMC1050491          DOI： 10.1136/jmg.32.6.483

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


  16 in total

1.  The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Authors:  J E Hoogendijk; G W Hensels; I Zorn; L Valentijn; E A Janssen; M de Visser; D F Barker; B W Ongerboer de Visser; F Baas; P A Bolhuis
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

Review 2.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

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.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

5.  De-novo mutation in hereditary motor and sensory neuropathy type I.

Authors:  J E Hoogendijk; G W Hensels; A A Gabreëls-Festen; F J Gabreëls; E A Janssen; P de Jonghe; J J Martin; C van Broeckhoven; L J Valentijn; F Baas
Journal:  Lancet       Date:  1992-05-02       Impact factor: 79.321

6.  Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

Authors:  M Upadhyaya; M Shen; A Cherryson; J Farnham; J Maynard; S M Huson; P S Harper
Journal:  Hum Mol Genet       Date:  1992-12       Impact factor: 6.150

7.  The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Authors:  P I Patel; B B Roa; A A Welcher; R Schoener-Scott; B J Trask; L Pentao; G J Snipes; C A Garcia; U Francke; E M Shooter; J R Lupski; U Suter
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

8.  Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; P De Jonghe; J E Hoogendijk; F Baas; D F Barker; J J Martin; M De Visser; P A Bolhuis
Journal:  Neuromuscul Disord       Date:  1991       Impact factor: 4.296

9.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies.

Authors:  P F Chance; M K Alderson; K A Leppig; M W Lensch; N Matsunami; B Smith; P D Swanson; S J Odelberg; C M Disteche; T D Bird
Journal:  Cell       Date:  1993-01-15       Impact factor: 41.582

10.  Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Authors:  F Palau; A Löfgren; P De Jonghe; S Bort; E Nelis; T Sevilla; J J Martin; J Vilchez; F Prieto; C Van Broeckhoven
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150
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  3 in total

Review 1.  Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Authors:  Henry Houlden; Mary M Reilly
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

2.  Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Authors:  Sandra Donkervoort; Ying Hu; Tanya Stojkovic; Nicol C Voermans; A Reghan Foley; Meganne E Leach; Jahannaz Dastgir; Véronique Bolduc; Thomas Cullup; Alix de Becdelièvre; Lin Yang; Hai Su; Katherine Meilleur; Alice B Schindler; Erik-Jan Kamsteeg; Pascale Richard; Russell J Butterfield; Thomas L Winder; Thomas O Crawford; Robert B Weiss; Francesco Muntoni; Valérie Allamand; Carsten G Bönnemann
Journal:  Hum Mutat       Date:  2015-01       Impact factor: 4.878

3.  Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Authors:  Katherine Schon; Olivera Spasic-Boskovic; Kim Brugger; Tracey D Graves; Stephen Abbs; Soo-Mi Park; Gautam Ambegaonkar; Ruth Armstrong
Journal:  Neurogenetics       Date:  2017-01-06       Impact factor: 2.660
  3 in total

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