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  Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.

Bartsch, O., Gebauer, K., Lechno, S., van Esch, H., Froyen, G., Bonin, M., et al. (2010). Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. American Journal of Medical Genetics Part A, 152A(2), 305-312,. doi:10.1002/ajmg.a.33198.

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Genre: Journal Article
Alternative Title : Am J Med Genet Part A

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 Creators:
Bartsch, Oliver, Author
Gebauer, Konstanze, Author
Lechno, Stanislav, Author
van Esch, Hilde, Author
Froyen, Guy, Author
Bonin, Michael, Author
Jörg Seidel, Jörg Seidel, Author
Thamm-Mücke, Barbara, Author
Horn, Denise, Author
Klopock, Eva1, Author
Hertzberg, Christoph, Author
Zechner, Ulrich2, Author              
Haaf, Thomas3, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Lubs X-linked mental retardation syndrome; chromosome Xq28; MECP2; microarray-based chromosome analysis; recurrent breakpoints; Botox; botulinum toxin
 Abstract: The Lubs X-linked mental retardation syndrome (MRXSL) is caused by small interstitial duplications at distal Xq28 including the MECP2 gene. Here we report on four novel male patients with MRXSL and different Xq28 duplications delineated by microarray-based chromosome analysis. All mothers were healthy carriers of the duplications. Consistent with an earlier report [Bauters et al. (2008); Genome Res 18: 847–858], the distal breakpoints of all four Xq28 duplications were located in regions containing low-copy repeats (LCRs; J, K, and L groups), which may facilitate chromosome breakage and reunion events. The proximal breakpoint regions did not contain known LCRs. Interestingly, we identified apparent recurrent breakage sites in the proximal and distal breakpoint regions. Two of the four patients displayed more complex rearrangements. Patient 2 was endowed with a quadruplicated segment and a small triplication within the duplication, whereas patient 3 displayed two triplicated segments within the duplication, supporting that the Fork Stalling and Template Switching (FoSTeS) model may explain a subset of the structural rearrangements in Xq28. Clinically, muscular hypertonia and contractures of large joints may present a major problem in children with MRXSL. Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures.

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Language(s): eng - English
 Dates: 2010-01-15
 Publication Status: Published in print
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet Part A
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 152A (2) Sequence Number: - Start / End Page: 305 - 312, Identifier: ISSN: 1552-4825