Molecular characterization of cystinuria in south-eastern European countries View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-12-27

AUTHORS

Katerina Popovska-Jankovic, Velibor Tasic, Radovan Bogdanovic, Predrag Miljkovic, Emilija Golubovic, Alper Soylu, Marjan Saraga, Snezana Pavicevic, Esra Baskin, Ipek Akil, Alojz Gregoric, Marusia Lilova, Rezan Topaloglu, Emilija Sukarova Stefanovska, Dijana Plaseska-Karanfilska

ABSTRACT

Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c.1048_1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families. More... »

PAGES

21-30

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00240-012-0531-x

DOI

http://dx.doi.org/10.1007/s00240-012-0531-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1039232306

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23532419


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23 schema:description Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c.1048_1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families.
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29 schema:keywords Albanians
30 European countries
31 European families
32 G105R
33 Gypsies
34 M mutation
35 M467T
36 Macedonian
37 SLC3A1
38 SLC3A1 gene
39 SLC7A9 gene
40 Serbs
41 South-Eastern European countries
42 T216M
43 acid
44 amino acids
45 autosomal recessive disorder
46 care
47 cause
48 characterization
49 chromosomes
50 common mutations
51 conformational polymorphism
52 countries
53 cystine
54 cystinuria
55 cystinuria mutations
56 defective transport
57 diagnosis
58 dibasic amino acids
59 different mutations
60 direct sequencing
61 disorders
62 early preventive care
63 family
64 fragment length polymorphism
65 genes
66 genetic diagnosis
67 intestine
68 introduction
69 length polymorphism
70 methodology
71 molecular characterization
72 molecular methodologies
73 mutations
74 only mutation
75 patients
76 polymorphism
77 population specificity
78 prenatal diagnosis
79 preventive care
80 proximal renal tubules
81 recessive disorder
82 renal tubules
83 restriction fragment length polymorphism
84 results
85 sequencing
86 single-strand conformational polymorphism
87 small intestine
88 specificity
89 strand conformational polymorphism
90 study
91 total
92 transport
93 tubules
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