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A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

Dissanayake VH, Jayasinghe JD, Thilakaratne V, Jayasekara RW - J Mol Genet Med (2011)

View Article: PubMed Central - PubMed

Affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.

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Glycogen storage disease type Ib (GSD Ib) [MIM 232220] is caused by mutations in the gene encoding microsomal glucose-6-phosphate translocase (G6PT)... This protein transports glucose-6-phosphate into the endoplasmic reticulum, where the enzyme glucose-6-phosphatase converts glucose-6-phosphate into glucose and inorganic phosphate... Mutations in SLC37A4 result in accumulation of glucose-6-phosphate in cells... Based on the above clinical and laboratory findings, a clinical diagnosis of GSD type I was determined... First mutation analysis of the glucose-6-phosphatase (G6PC) gene was undertaken to confirm/exclude GSD Ia... No mutations were found in the G6PC gene... This was followed by screening for mutations in SLC37A4 gene to confirm/exclude GSD Ib... Sequence analysis showed that codon 50 of the SLC37A4 gene was converted from GGG to GAG by the substitution of a Guanine nucleotide by an Adenine nucleotide (Figure 1)... This results in the substitution of Glyceine (G) by Glutemic acid (E) in the amino acid sequence of the G6PT protein [p.G50E]... In contrast, chronic neutropenia due to impaired function of neutrophils, is found in GSD Ib... In addition, patients with GSD Ib commonly have infectious complications which are caused by neutropenia and dysfunction of neutrophils... In untreated patients with GSD Ib, neutropenia usually manifests after about 1 year of age... In this child however, neutrophils were significantly reduced, with recurrent skin sepsis almost from birth... In summary, we identified a missence mutation in the SLC37A4 gene [p.G50E] in a Sri Lankan child with clinical and laboratory findings suggestive of the diagnosis of GSD Ib.

No MeSH data available.


Electrophorogram of the sense strand nucleotide sequence of the SLC37A4 gene. The arrow indicates Guanine → Adenine substitution at codon 50 in exon 1, resulting in the p.G50E missense mutation.
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Figure 1: Electrophorogram of the sense strand nucleotide sequence of the SLC37A4 gene. The arrow indicates Guanine → Adenine substitution at codon 50 in exon 1, resulting in the p.G50E missense mutation.

Mentions: Sequence analysis showed that codon 50 of the SLC37A4 gene was converted from GGG to GAG by the substitution of a Guanine nucleotide by an Adenine nucleotide (Figure 1). This results in the substitution of Glyceine (G) by Glutemic acid (E) in the amino acid sequence of the G6PT protein [p.G50E].


A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

Dissanayake VH, Jayasinghe JD, Thilakaratne V, Jayasekara RW - J Mol Genet Med (2011)

Electrophorogram of the sense strand nucleotide sequence of the SLC37A4 gene. The arrow indicates Guanine → Adenine substitution at codon 50 in exon 1, resulting in the p.G50E missense mutation.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3104247&req=5

Figure 1: Electrophorogram of the sense strand nucleotide sequence of the SLC37A4 gene. The arrow indicates Guanine → Adenine substitution at codon 50 in exon 1, resulting in the p.G50E missense mutation.
Mentions: Sequence analysis showed that codon 50 of the SLC37A4 gene was converted from GGG to GAG by the substitution of a Guanine nucleotide by an Adenine nucleotide (Figure 1). This results in the substitution of Glyceine (G) by Glutemic acid (E) in the amino acid sequence of the G6PT protein [p.G50E].

View Article: PubMed Central - PubMed

Affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Glycogen storage disease type Ib (GSD Ib) [MIM 232220] is caused by mutations in the gene encoding microsomal glucose-6-phosphate translocase (G6PT)... This protein transports glucose-6-phosphate into the endoplasmic reticulum, where the enzyme glucose-6-phosphatase converts glucose-6-phosphate into glucose and inorganic phosphate... Mutations in SLC37A4 result in accumulation of glucose-6-phosphate in cells... Based on the above clinical and laboratory findings, a clinical diagnosis of GSD type I was determined... First mutation analysis of the glucose-6-phosphatase (G6PC) gene was undertaken to confirm/exclude GSD Ia... No mutations were found in the G6PC gene... This was followed by screening for mutations in SLC37A4 gene to confirm/exclude GSD Ib... Sequence analysis showed that codon 50 of the SLC37A4 gene was converted from GGG to GAG by the substitution of a Guanine nucleotide by an Adenine nucleotide (Figure 1)... This results in the substitution of Glyceine (G) by Glutemic acid (E) in the amino acid sequence of the G6PT protein [p.G50E]... In contrast, chronic neutropenia due to impaired function of neutrophils, is found in GSD Ib... In addition, patients with GSD Ib commonly have infectious complications which are caused by neutropenia and dysfunction of neutrophils... In untreated patients with GSD Ib, neutropenia usually manifests after about 1 year of age... In this child however, neutrophils were significantly reduced, with recurrent skin sepsis almost from birth... In summary, we identified a missence mutation in the SLC37A4 gene [p.G50E] in a Sri Lankan child with clinical and laboratory findings suggestive of the diagnosis of GSD Ib.

No MeSH data available.