Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Grossi, Serena; Regis, Stefano; Biancheri, Roberta; Mort, Matthew; Lualdi, Susanna; Bertini, Enrico; Uziel, Graziella; Boespflug-Tanguy, Odile; Simonati, Alessandro; Corsolini, Fabio; DEMİR, ERCAN; Marchiani, Valentina; Percesepe, Antonio; Stanzial, Franco; Rossi, Andrea; Vaurs-Barriere, Catherine; Cooper, David; Filocamo, Mirella

doi:10.1186/1750-1172-6-40

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Grossi S., Regis S., Biancheri R., Mort M., Lualdi S., Bertini E., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.6, 2011 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 6
Basım Tarihi: 2011
Doi Numarası: 10.1186/1750-1172-6-40
Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Gazi Üniversitesi Adresli: Evet

Özet

Background: The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients.