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McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

✍ Scribed by Claudio Bruno; Denise Cassandrini; Andrea Martinuzzi; Antonio Toscano; Maurizio Moggio; Lucia Morandi; Serena Servidei; Tiziana Mongini; Corrado Angelini; Olimpia Musumeci; Giacomo P. Comi; Costanza Lamperti; Massimiliano Filosto; Federico Zara; Carlo Minetti

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 147 KB
Volume: 27
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9434

No coin nor oath required. For personal study only.

✦ Synopsis

Deficiency of the muscle isozyme of glycogen phosphorylase is causative of McArdle disease or Glycogen storage disease type V (GSD-V), the most common autosomal recessive disorder of glycogen metabolism. The typical clinical presentation is characterized by exercise intolerance with cramps, and recurrent myoglobinuria. To date, 46 mutations in the PYGM gene have been detected in GSD-V patients. We report the mutational spectrum in 68 Italian patients. We identified 30 different mutations in the PYGM gene, including 19 mutations that have not been reported previously. The novel mutations include: eight missense mutations (c.475G>A, p.G159R; c.689C>G, p.P230R; c.1094C>T, p.A365E; c.1151C>A, p.A384D; c.1182C>T, p.R428C; c.1471C>T, p.R491C; c.2444A>C, p.D815A; c.2477G>C, p.W826S), two nonsense mutations (c.1475G>A, p.W492X; c.1627A>T, p.K543X), five splice site mutations (c.855 +1G>C; c.1092 +1G>A; c. 1093-1G>T; c.1239 +1G>A; c.2380 +1G>A), and four deletions (c.715_717delGTC, p.V239del; c.304delA, p.N102DfsX4; c.1970_2177del, p.V657_G726; c.2113_2114delGG, p.G705RfsX16). Whereas we confirmed lack of direct correlation between the clinical phenotype and the genotype, we also found that the so-called 'common mutation' (p.R50X) accounted for about 43% of alleles in our cohort and that no population-related mutations are clearly identified in Italian patients.

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