A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus-Reference-Cited by-同舟云学术

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A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus

Published:2014 Issue: Volume: Page:13-21
ISSN:2192-8304
Container-title:JIMD Reports
language:
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Author:

Zanetti Alessandra,Tomanin Rosella,Rampazzo Angelica,Rigon Chiara,Gasparotto Nicoletta,Cassina Matteo,Clementi Maurizio,Scarpa Maurizio

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_317

Reference21 articles.

1. Beck M, Steglich C, Zabel B, Dahl N, Schwinger E, Hopwood JJ, Gal A (1992) Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. Am J Med Genet 44:100–103

2. Bergeron A, Picard V, LaRue H, Harel F, Hovington H, Lacombe L, Fradet Y (2009) High frequency of MAGE-A4 and MAGE-A9 expression in high-risk bladder cancer. Int J Cancer 125:1365–1371

3. Birot AM, Delobel B, Gronnier P, Bonnet V, Maire I, Bozon D (1996) A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. Hum Mutat 7:266–268

4. Brusius-Facchin AC, De Souza CF, Schwartz IV et al (2012) Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. Am J Med Genet A 158A:1055–1059

5. Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR (2012) Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). J Child Neurol 27:786–790

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