A Novel Missense Mutation (W797R) in the Myophosphorylase Gene in Spanish Patients With McArdle Disease

Abstract

The W797R missense mutation is the third novel mutation to be identified among Spanish patients. Its relative frequency suggests that it should be added to the R49X mutation in the molecular screening of McArdle disease in Spain.

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

“…Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24. Of the 9 patients with the W797R mutation described here, 4 have been documented in previous reports 20, 30…”

“…The W797R mutation was observed in 16.5% of our patients (9 of 54), accounting for 13.7% of mutant alleles (15 of 108). This mutation has only been reported in Spanish patients and seems to be frequent in this population 20, 30…”

“…Sixteen further mutations were identified. Of them, 10 have been reported elsewhere: 5′ivs14 g→a,12 753 delA,14, 15 L115P,19 N684Y,16 794/795 delAA,22 R193W,22 T487N,21 A659D,23 W797R,20, 30 and 387 insA/del 8 bp 24. Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24.…”

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

“…Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24. Of the 9 patients with the W797R mutation described here, 4 have been documented in previous reports 20, 30…”

“…The W797R mutation was observed in 16.5% of our patients (9 of 54), accounting for 13.7% of mutant alleles (15 of 108). This mutation has only been reported in Spanish patients and seems to be frequent in this population 20, 30…”

“…Sixteen further mutations were identified. Of them, 10 have been reported elsewhere: 5′ivs14 g→a,12 753 delA,14, 15 L115P,19 N684Y,16 794/795 delAA,22 R193W,22 T487N,21 A659D,23 W797R,20, 30 and 387 insA/del 8 bp 24. Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24.…”

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

“…Although the R49X mutation is clearly the most prevalent in white patients, patients with McArdle's disease manifest considerable allelic heterogeneity, a characteristic shared with other glycogenoses, such as acid maltase and phosphofructokinase deficiencies 11, 14. The work done on Spanish patients has made a significant contribution to showing this heterogeneity, as almost 40% of the mutations in the gene have been identified in patients from this population 1, 4, 5, 8–11, 16…”

Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease

“…Thus, this mutation likely arose in and is specific to Turkey. Other population specific mutations have been reported for McArdle disease in Finnish (p.Glu540X) [30], Japanese (p.Thr310X) [31], and Spanish cohorts (p.Try798Arg) [32]. …”

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

“…Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24. Of the 9 patients with the W797R mutation described here, 4 have been documented in previous reports 20, 30…”

“…The W797R mutation was observed in 16.5% of our patients (9 of 54), accounting for 13.7% of mutant alleles (15 of 108). This mutation has only been reported in Spanish patients and seems to be frequent in this population 20, 30…”

“…Sixteen further mutations were identified. Of them, 10 have been reported elsewhere: 5′ivs14 g→a,12 753 delA,14, 15 L115P,19 N684Y,16 794/795 delAA,22 R193W,22 T487N,21 A659D,23 W797R,20, 30 and 387 insA/del 8 bp 24. Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24.…”

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

“…Although the R49X mutation is clearly the most prevalent in white patients, patients with McArdle's disease manifest considerable allelic heterogeneity, a characteristic shared with other glycogenoses, such as acid maltase and phosphofructokinase deficiencies 11, 14. The work done on Spanish patients has made a significant contribution to showing this heterogeneity, as almost 40% of the mutations in the gene have been identified in patients from this population 1, 4, 5, 8–11, 16…”

Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease

“…Thus, this mutation likely arose in and is specific to Turkey. Other population specific mutations have been reported for McArdle disease in Finnish (p.Glu540X) [30], Japanese (p.Thr310X) [31], and Spanish cohorts (p.Try798Arg) [32]. …”

Molecular heterogeneity of myophosphorylase deficiency (Mcardle's disease): A genotype‐phenotype correlation study

“…Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24. Of the 9 patients with the W797R mutation described here, 4 have been documented in previous reports 20, 30…”

“…The W797R mutation was observed in 16.5% of our patients (9 of 54), accounting for 13.7% of mutant alleles (15 of 108). This mutation has only been reported in Spanish patients and seems to be frequent in this population 20, 30…”

“…Sixteen further mutations were identified. Of them, 10 have been reported elsewhere: 5′ivs14 g→a,12 753 delA,14, 15 L115P,19 N684Y,16 794/795 delAA,22 R193W,22 T487N,21 A659D,23 W797R,20, 30 and 387 insA/del 8 bp 24. Patients with L115P, N684Y, 794/795 delAA, R193W, T487N, A659D, and 387 insA/del 8 bp mutations are identical to those in whom these mutations have been first reported 16, 19, 21–24.…”

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease

“…Although the R49X mutation is clearly the most prevalent in white patients, patients with McArdle's disease manifest considerable allelic heterogeneity, a characteristic shared with other glycogenoses, such as acid maltase and phosphofructokinase deficiencies 11, 14. The work done on Spanish patients has made a significant contribution to showing this heterogeneity, as almost 40% of the mutations in the gene have been identified in patients from this population 1, 4, 5, 8–11, 16…”

Myophosphorylase ( PYGM ) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease

“…Thus, this mutation likely arose in and is specific to Turkey. Other population specific mutations have been reported for McArdle disease in Finnish (p.Glu540X) [30], Japanese (p.Thr310X) [31], and Spanish cohorts (p.Try798Arg) [32]. …”