Back to Search
Start Over
CTNS mutations in African American patients with cystinosis
- Source :
- Molecular genetics and metabolism. 74(3)
- Publication Year :
- 2001
-
Abstract
- Cystinosis, an autosomal recessive lysosomal storage disorder, is rarely diagnosed in African Americans. The disease results from mutations in the gene CTNS ; at least 55 such mutations have been reported. By far the most common is a 57,257-bp deletion of Northern European origin encompassing most of the CTNS gene. We performed mutation analysis on DNA from four African American patients with cystinosis. In one individual with classical, nephropathic cystinosis, we identified a new molecular defect, i.e., a homozygous GT→CC substitution at the +5 position of IVS 5 of CTNS (IVS 5+5 GT→CC). The out-of-frame splicing of exon 5 creates a null allele consistent with the patient's severe phenotype. Two patients were heterozygous and one homozygous for the common 57-kb deletion allele, reflecting the admixture of African and Northern European gene pools in North America. The two African Americans heterozygous for the 57-kb deletion were also hemizygous for a 928G→A change, associated with ocular or nonnephropathic cystinosis. These two individuals are the only known African Americans with ocular cystinosis. We conclude that the diagnosis of cystinosis should be entertained in African Americans with symptoms of the disease, and that mutation analysis for the 57-kb deletion should be considered in this group of patients.
- Subjects :
- Male
DNA, Complementary
Adolescent
Endocrinology, Diabetes and Metabolism
Cystinosis
DNA Mutational Analysis
Mutation, Missense
Black People
Disease
Biology
Biochemistry
Exon
Endocrinology
Nephropathic Cystinosis
Genetics
medicine
Humans
Child
Molecular Biology
Gene
Alleles
Glycoproteins
African american
Base Sequence
Membrane Proteins
Membrane Transport Proteins
DNA
medicine.disease
Null allele
Amino Acid Transport Systems, Neutral
Child, Preschool
Mutation
Mutation testing
Female
Kidney Diseases
Gene Deletion
Subjects
Details
- ISSN :
- 10967192
- Volume :
- 74
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Molecular genetics and metabolism
- Accession number :
- edsair.doi.dedup.....bd7224ec98592ab384dad49e84243b1b