Document Detail

Plp1 Gene Analysis In Eighty Eight Patients With Leukodystrophy.
MedLine Citation:
PMID:  23347225     Owner:  NLM     Status:  Publisher    
Introduction. Pelizaeus-Merzbacher disease (PMD) is caused in most cases by either duplications or point mutations in the PLP1 gene. This disease, a dysmyelinating disorder affecting mainly the central nervous system, has a wide clinical spectrum and its causing mutations act through different molecular mechanisms. Methods. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation-dependent Probe Amplification technique (MLPA) and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array-CGH. Results. We have identified 21 patients with mutations in the PLP1 gene, including duplications, short and large deletions and several point mutations in our cohort. A customized array-CGH at the Xq22.2 area identified several complex rearrangements within the PLP1 gene region. Conclusions. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.
P Martínez-Montero; M Muñoz-Calero; E Vallespín; J Campistol; L Martorell; Mj Ruiz-Falcó; A Santana; R Pons; A Dinopoulos; C Sierra; J Nevado; J Molano
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-25
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons A/S.
INGEMM. IdIPAZ. CIBERER. Hospital Universitario La Paz, Madrid., Spain.
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