Description:
SALLA DISEASE
SOLUTE CARRIER FAMILY 17, MEMBER 5; SLC17A5
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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FINNISH
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
SLC17A5 |
| Chromosomal Location |
6q14-q15 |
| Allelic Variant 1 |
604322.0001; SALLA DISEASE |
| Identified Mutation |
ARG39CYS; In 5 Finnish patients with classic Salla disease (604369), Verheijen et al. (Nature Genet. 23: 462-465, 1999) found an arg39-to-cys (R39C) missense mutation caused by a homozygous C-to-T transition at nucleotide 115 of the SLC17A5 gene. Aula et al. (Am. J. Hum. Genet. 67: 832-840, 2000) found that the homozygous R39C mutation was associated with a milder phenotype (Salla disease). |
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| Gene |
SLC17A5 |
| Chromosomal Location |
6q14-q15 |
| Allelic Variant 2 |
604322.0001; SALLA DISEASE |
| Identified Mutation |
ARG39CYS; In 5 Finnish patients with classic Salla disease (604369), Verheijen et al. (Nature Genet. 23: 462-465, 1999) found an arg39-to-cys (R39C) missense mutation caused by a homozygous C-to-T transition at nucleotide 115 of the SLC17A5 gene. Aula et al. (Am. J. Hum. Genet. 67: 832-840, 2000) found that the homozygous R39C mutation was associated with a milder phenotype (Salla disease). |
| Remarks |
Clinically affected; no family history; normal newborn period; hypotonia during first months of life; ocular squint at 3 months; ataxia at 6 months; walking with aid at 3 years, later unable to walk; delayed speech, at 5 years only able to say a few words or simple sentences; severe mental retardation; urinary free sialic acid 98 micromole/mmole creatinine (control = 14); donor subject is homozygous for the Finnish founder mutations: a C-to-T transition at nucleotide 115 (115C>T) in exon 2 of the SLC17A5 gene which results in a missense mutation [ARG39CYS (R39C)]. |
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