PLP1 gene analysis in 88 patients with leukodystrophy.
Clin Genet
; 84(6): 566-71, 2013 Dec.
Article
in En
| MEDLINE
| ID: mdl-23347225
ABSTRACT
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. Eighty-eight male patients with leukodystrophy were studied. PLP1 gene analysis was performed by the Multiplex Ligation-dependent Probe Amplification technique and DNA sequencing, and, in duplicated cases of PLP1, gene dosage was completed by using array-CGH. 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. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Myelin Proteolipid Protein
/
Pelizaeus-Merzbacher Disease
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Clin Genet
Year:
2013
Document type:
Article
Affiliation country:
España