Dört Aileden Pelizaeus-Merzbacher Sendromlu Altı Hastanın Klinik ve Moleküler Sitogenetik Analizleri

Objective: Pelizaeus-Merzbacher Disease is a rare X-linked recessive leukodystrophy caused by mutation in the proteolipid protein (PLP) gene on chromosome Xq22. PMD an early-onset neurological disorder characterized nystagmus, spastic quadriplegia, ataxia, and developmental delay. Genetic analysis has identified Xq22 microduplications (60-70%), point mutations (10–25%), deletions (5-10%) within coding region of PLP genes Disease. This study evaluated six patients with PLP1 deletion duplication four Turkish families. Material Methods: To detect PLP1, chromosomal microarray analysis, multiplex ligation-related probe amplification assays were performed. Results: In these families, two brothers had hemizygous gene, their carrier mother another unrelated boys one girl PLP1. Also, we case brother who found to have gene. Their unexplained dementia. Conclusion: Genotype-phenotype correlations families this while trying elucidate genetic etiology individuals from different