Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease-Reference-Cited by-同舟云学术

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Published:2015-09-02 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Masliah-Planchon Julien,Dupont Céline,Vartzelis George,Trimouille Aurélien,Eymard-Pierre Eléonore,Gay-Bellile Mathilde,Renaldo Florence,Dorboz Imen,Pagan Cécile,Quentin Samuel,Elmaleh Monique,Kotsogianni Christina,Konstantelou Elissavet,Drunat Séverine,Tabet Anne-Claude,Boespflug-Tanguy Odile

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-015-0226-6.pdf

Reference16 articles.

1. Woodward KJ. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease. Expert Rev Mol Med. 2008;10:e14.

2. Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain J Neurol. 2005;128(4):743–51.

3. Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, et al. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet. 2012;55(6–7):400–3.

4. Fonseca ACS, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clin Genet. 2013;83(2):169–74.

5. Yiu EM, Farrell SA, Soman T. Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1. Mov Disord. 2009;24(14):2171–2.

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