Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the codi...
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doaj-9f8cfcb0e4644d849c7c5334106a4c472020-11-24T23:11:57ZengElsevierNefrología (English Edition)2013-25142015-11-0135654755310.1016/j.nefroe.2015.11.010Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosisSaied Jaradat0Bothina Al-Rababah1Issa Hazza2Kamal Akl3Edward Saca4Doaa Al-Younis5Princess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid, JordanPrincess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid, JordanPediatric Department, King Hussein Medical Center, Amman, JordanDepartment of Pediatrics, Jordan University Hospital, Amman, JordanPediatric Nephrology Clinic, Ibn-Alhaitham Hospital, Amman, JordanPrincess Haya Biotechnology Center, Jordan University of Science and Technology, Irbid, JordanObjective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis. Methods: Probands initially presented with Fanconi syndrome symptoms. An eye examination showed the accumulation of cystine crystals in the cornea by the age of 2 years, suggesting cystinosis. All of the coding exons and flanking intronic sequences and the promoter region of the CTNS gene were amplified using polymerase chain reaction and subjected to sequencing. Results: None of the probands in this study carried the European 57-kb deletion in the CTNS gene. Seven variants in the coding and promoter sequence of the CTNS gene were identified in the probands of this study. Two of these variants were a CTNS mutation that was previously identified in a heterozygous genotype in two different patients of European descendant. The two mutations were c.829dupA in exon 10 and c.890G>A in exon 11. The proband of family 2 was compound-heterozygous for the two mutations. Conclusion: This study is the first molecular study of infantile nephropathic cystinosis in Jordan. We successfully identified the causative CTNS mutations in Jordanian families. The results provide a basis for the early detection of the disease using molecular tools in a highly consanguineous Jordanian population.http://www.sciencedirect.com/science/article/pii/S2013251415001030Nephropathic cystinosisCTNS mutationsCystinosinJordanMiddle East |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Saied Jaradat Bothina Al-Rababah Issa Hazza Kamal Akl Edward Saca Doaa Al-Younis |
spellingShingle |
Saied Jaradat Bothina Al-Rababah Issa Hazza Kamal Akl Edward Saca Doaa Al-Younis Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis Nefrología (English Edition) Nephropathic cystinosis CTNS mutations Cystinosin Jordan Middle East |
author_facet |
Saied Jaradat Bothina Al-Rababah Issa Hazza Kamal Akl Edward Saca Doaa Al-Younis |
author_sort |
Saied Jaradat |
title |
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis |
title_short |
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis |
title_full |
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis |
title_fullStr |
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis |
title_full_unstemmed |
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis |
title_sort |
molecular analysis of the ctns gene in jordanian families with nephropathic cystinosis |
publisher |
Elsevier |
series |
Nefrología (English Edition) |
issn |
2013-2514 |
publishDate |
2015-11-01 |
description |
Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis.
Methods: Probands initially presented with Fanconi syndrome symptoms. An eye examination showed the accumulation of cystine crystals in the cornea by the age of 2 years, suggesting cystinosis. All of the coding exons and flanking intronic sequences and the promoter region of the CTNS gene were amplified using polymerase chain reaction and subjected to sequencing.
Results: None of the probands in this study carried the European 57-kb deletion in the CTNS gene. Seven variants in the coding and promoter sequence of the CTNS gene were identified in the probands of this study. Two of these variants were a CTNS mutation that was previously identified in a heterozygous genotype in two different patients of European descendant. The two mutations were c.829dupA in exon 10 and c.890G>A in exon 11. The proband of family 2 was compound-heterozygous for the two mutations.
Conclusion: This study is the first molecular study of infantile nephropathic cystinosis in Jordan. We successfully identified the causative CTNS mutations in Jordanian families. The results provide a basis for the early detection of the disease using molecular tools in a highly consanguineous Jordanian population. |
topic |
Nephropathic cystinosis CTNS mutations Cystinosin Jordan Middle East |
url |
http://www.sciencedirect.com/science/article/pii/S2013251415001030 |
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