Congenital muscular dystrophies with defective glycosylation of dystroglycan  

Oleh:

Mercuri, E. ; Messina, S. ; Bruno, C. ; Mora, M. ; Pegoraro, E.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Neurology (Official Journal of The American Academy of Neurology) vol. 72 no. 21 (May 2009), page 1802-1809.
Topik: GLYCOSYLTRANSFERASES; MUTATIONS

Ketersediaan

Perpustakaan FK Nomor Panggil: N11.K.2009.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Background: Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan ({alpha}-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases. Objectives: The aim of the study was to establish the prevalence of mutations in the six genes in the Italian population and the spectrum of clinical and brain MRI findings. Methods: As part of a multicentric study involving all the tertiary neuromuscular centers in Italy, FKRP, POMT1, POMT2, POMGnT1, fukutin, and LARGE were screened in 81 patients with CMD and {alpha}-DG reduction on muscle biopsy (n = 76) or with a phenotype suggestive of {alpha}-dystroglycanopathy but in whom a muscle biopsy was not available for {alpha}-DG immunostaining (n = 5). Results: Homozygous and compound heterozygous mutations were detected in a total of 43/81 patients (53%), and included seven novel variants. Mutations in POMT1 were the most prevalent in our cohort (21%), followed by POMT2 (11%), POMGnT1 (10%), and FKRP (9%). One patient carried two heterozygous mutations in fukutin and one case harbored a new homozygous variant in LARGE. No clear-cut genotype-phenotype correlation could be observed with each gene, resulting in a wide spectrum of clinical phenotypes. The more severe phenotypes, however, appeared to be consistently associated with mutations predicted to result in a severe disruption of the respective genes. Conclusions: Our data broaden the clinical spectrum associated with mutations in glycosyltransferases and provide data on their prevalence in the Italian population.

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