Literature DB >> 1481858

Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.

B Winchester1, E Young, S Geddes, S Genet, J Hurst, H Middleton-Price, N Williams, M Webb, A Habel, S Malcolm.   

Abstract

We report the occurrence of Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl who was one of identical twins. Molecular studies showed nonrandom X-inactivation in both her fibroblasts and lymphocytes, while her normal twin showed equal usage of both X chromosomes. In view of previous reports of 7 pairs of identical female twins in which one had Duchenne muscular dystrophy, it seems that twinning may be strongly associated with nonrandom X-inactivation, and is not specific to the properties of the disease causing gene.

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Year:  1992        PMID： 1481858     DOI： 10.1002/ajmg.1320440625

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  17 in total

1.  Monozygotic twins discordant for Aicardi syndrome.

Authors:  T Costa; W Greer; G Rysiecki; J R Buncic; P N Ray
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  De novo inverted duplication of chromosome 7q.

Authors:  J S Haslam; A M Norman
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

Review 3.  X chromosome inactivation in clinical practice.

Authors:  Karen Helene Orstavik
Journal:  Hum Genet       Date:  2009-04-25       Impact factor: 4.132

Review 4.  Genetic control of X inactivation and processes leading to X-inactivation skewing.

Authors:  J W Belmont
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

5.  Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Authors:  I Redonnet-Vernhet; J K Ploos van Amstel; R P Jansen; R A Wevers; R Salvayre; T Levade
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

6.  X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin.

Authors:  J Azofeifa; R Waldherr; M Cremer
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

7.  Long-term follow-up following bone marrow transplantation for Hunter disease.

Authors:  A Vellodi; E Young; A Cooper; V Lidchi; B Winchester; J E Wraith
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

8.  X inactivation patterns in female monozygotic twins and their families.

Authors:  E Watkiss; T Webb; G Rysiecki; N Girdler; E Hewett; S Bundey
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

9.  Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

Authors:  Renzo Manara; Angelica Rampazzo; Mara Cananzi; Leonardo Salviati; Rodica Mardari; Paola Drigo; Rosella Tomanin; Nicoletta Gasparotto; Elena Priante; Maurizio Scarpa
Journal:  J Inherit Metab Dis       Date:  2010-01-06       Impact factor: 4.982

Review 10.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123
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