Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

Darvish, Daniel; Vahedifar, P.; Huo, Yongjiu

doi:10.1016/s1096-7192(02)00141-5

Cited by 26 publications

(22 citation statements)

References 20 publications

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“…28 Moreover, a recent animal study revealed the important role of GNE in the early development of cardiac muscles. 34 Interestingly, none of our patients nor other reported Iranian non-Jewish patients 4,22 had any heart problems.…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 60%

“…The average age of onset of Middle-Eastern patients homozygous for the c.2228T4C (p.M743T) variant (based on data from 140 patients) was 30 years. 7,22 The earliest and the latest recorded age of onset in patients from the Middle East were 17 and 48 years, respectively. 5,17,23,24 The mean onset age of Japanese and Indian patients was 26 years.…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

“…8 To date, around 150 GNE myopathy cases of Persian Jewish descent have been reported. 7,22 Here, we studied 11 non-Jewish families from Iran affected with GNE myopathy and performed comprehensive clinical and molecular investigations of the 18 affected patients. Two disease-causing homozygous GNE missense variants, c.830G4A (p.R277Q) and c.2228T4C (p. M743T) were identified to be responsible for the disease in nine families.…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

“…30,31 The c.2228T4C (p.M743T) founder variant has been estimated to have arisen about 2500 years ago. 23 This variant has been found in the homozygous state in Iranian Jewish 7,22 and non-Jewish, 22 Tunisian, 32 Middle Eastern Muslim, 38 Egyptian Muslim, 39 and Japanese 40,41 patients and in heterozygous state in a few patients from Italy, 36 Tunisia, 32 and Japan. 42 The most prevalent variant in the Japanese 41 and Korean 33 patients is p.V603L, followed by p.D207V in Japanese and p.C44S in Koreans.…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

“…14 At amino acid position 277 of GNE, two other variants have been reported: p.R277W and p.R277Q. The p.R277W variant was identified in families of European ancestry, 22,43,44 a family from China, 43 a family of Italian descent, 45 and a family from Japan). 40 The c.830G4A (p.R277Q) variant has been identified in the heterozygous state in patients from the Bahamas (with p.D256N), 7 Taiwan (with p.I272S), 46 Italy (with p.Q386_C388del/p.G352fs*15), 47 and Japan (with p.D207V and p.V603L).…”

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

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Genetics of GNE myopathy in the non-Jewish Persian population

et al. 2015

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Section: Phenotype Spectrum Of Variantsmentioning

confidence: 60%

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

Section: Phenotype Spectrum Of Variantsmentioning

confidence: 99%

See 3 more Smart Citations

Genetics of GNE myopathy in the non-Jewish Persian population

et al. 2015

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GNE Myopathy (Hereditary Inclusion‐Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology

Argov

Nishino

Nonaka

2011

Muscle Aging, Inclusion‐Body Myositis and Myopathies

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Mutation Update forGNEGene Variants Associated with GNE Myopathy

et al. 2014

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The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not absent, GNE enzyme activities. The exact pathomechanism of GNE myopathy remains unknown, but likely involves aberrant (muscle) sialylation. Here we summarize 154 reported and novel GNE variants associated with GNE myopathy, including 122 missense, 11 nonsense, 14 insertion/deletions and 7 intronic variants. All variants were deposited in the online GNE variation database (http://www.dmd.nl/nmdb2/home.php?select_db=GNE). We report the predicted effects on protein function of all variants as well as the predicted effects on epimerase and/or kinase enzymatic activities of selected variants. By analyzing exome sequence databases, we identified three frequently occurring, unreported GNE missense variants/polymorphisms, important for future sequence interpretations. Based on allele frequencies, we estimate the world-wide prevalence of GNE myopathy to be ~ 4–21/1,000,000. This previously unrecognized high prevalence confirms suspicions that many patients may escape diagnosis. Awareness among physicians for GNE myopathy is essential for the identification of new patients, which is required for better understanding of the disorder’s pathomechanism and for the success of ongoing treatment trials.

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Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

Cited by 26 publications

References 20 publications

Genetics of GNE myopathy in the non-Jewish Persian population

Genetics of GNE myopathy in the non-Jewish Persian population

GNE Myopathy (Hereditary Inclusion‐Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology

Mutation Update forGNEGene Variants Associated with GNE Myopathy

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