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Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.

Choi YA, Park SH, Yi Y, Kim K - Ann Rehabil Med (2015)

Bottom Line: Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression.A 48-year-old female had a complaint of left foot drop since the age of 46 years.Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea.

ABSTRACT
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

No MeSH data available.


Related in: MedlinePlus

Electropherogram of compound heterozygous mutations in this patient with GNE myopathy. (A) G-to-C transitionat nucleotide position (c.1714G>C). (B) A-to-T transition at nucleotide position (c.527A>T).
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Figure 3: Electropherogram of compound heterozygous mutations in this patient with GNE myopathy. (A) G-to-C transitionat nucleotide position (c.1714G>C). (B) A-to-T transition at nucleotide position (c.527A>T).

Mentions: We identified a c.1714G>C/c.527A>T compound heterozygous mutation that were compound heterozygote of G-to-C transition at nucleotide position (c.1714G>C), which change an amino acid at codon 572 from valine to leucin (p. Val572Leu), and an A-to-T transition at nucleotide position (c.527A>T), which change an amino acid at codon 176 from aspartic acid to valine (p.Asp176Val) (Fig. 3).


Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.

Choi YA, Park SH, Yi Y, Kim K - Ann Rehabil Med (2015)

Electropherogram of compound heterozygous mutations in this patient with GNE myopathy. (A) G-to-C transitionat nucleotide position (c.1714G>C). (B) A-to-T transition at nucleotide position (c.527A>T).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496523&req=5

Figure 3: Electropherogram of compound heterozygous mutations in this patient with GNE myopathy. (A) G-to-C transitionat nucleotide position (c.1714G>C). (B) A-to-T transition at nucleotide position (c.527A>T).
Mentions: We identified a c.1714G>C/c.527A>T compound heterozygous mutation that were compound heterozygote of G-to-C transition at nucleotide position (c.1714G>C), which change an amino acid at codon 572 from valine to leucin (p. Val572Leu), and an A-to-T transition at nucleotide position (c.527A>T), which change an amino acid at codon 176 from aspartic acid to valine (p.Asp176Val) (Fig. 3).

Bottom Line: Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression.A 48-year-old female had a complaint of left foot drop since the age of 46 years.Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know.

View Article: PubMed Central - PubMed

Affiliation: Department of Rehabilitation Medicine, Seoul National University Hospital, Seoul, Korea.

ABSTRACT
Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is caused by mutations in GNE, a key enzyme in sialic acid biosynthesis. Here, we reported a case of GNE that presented with atypical mild clinical feature and slow progression. A 48-year-old female had a complaint of left foot drop since the age of 46 years. Electromyography (EMG) and muscle biopsy from left tibialis anterior muscle were compatible with myopathy. Genetic analysis led to the identification of c.1714G>C/c.527A>T compound heterozygous mutation, which is the second most frequent mutation in Japan as far as we know. Previous research has revealed that c.1714G>C/c.527A>T compound heterozygous mutation is a mild mutation as the onset of the disease is much later than the usual age of onset of GNE myopathy and the clinical course is slowly progressive. This was the first case report in Korea of the clinicopathological characteristics of GNE myopathy with GNE (c.1714G>C/c.527A>T compound heterozygous) mutation.

No MeSH data available.


Related in: MedlinePlus