Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms |
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| Authors: | Maryam Sobhani Mohammad Amin Tabatabaiefar Asadollah Rajab Abdol-Mohammad Kajbafzadeh Mohammad Reza Noori-Daloii |
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| Affiliation: | 1. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran;2. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran;3. Iranian Diabetes Society, Tehran, Iran;4. Pediatric Urology Research Center, Department of Pediatric Urology, Children''s Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran |
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| Abstract: | ![]()
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder that represents a likely source of childhood diabetes especially among countries in the consanguinity belt. The main responsible gene is WFS1 for which over one hundred mutations have been reported from different ethnic groups. The aim of this study was to identify the molecular etiology of WS and to perform a possible genotype–phenotype correlation in Iranian kindred. |
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| Keywords: | WS, Wolfram syndrome STR, short tandem repeats DNA, deoxyribonucleic acid Dup, duplication DM, diabetes mellitus DI, diabetes insipidus OA, optic atrophy DI-DM-OA-D, diabetes insipidus, diabetes mellitus, optic atrophy and deafness FVC, frequency volume chart VCUG, voiding cystourethrogram EDTA, ethylenediaminetetraacetic acid NCBI, National Center for Biotechnology Information PCR, polymerase chain reaction dNTP, deoxyribonucleotide triphosphate PAGE, polyacrylamide gel electrophoresis ddH2O, double-distilled dihydrogen monoxide/water SLINK, simulation of linkage LOD, logarithm of odds aa, amino acid BLAST, Basic Local Alignment Search Tool WFS1, Wolfram syndrome 1 gene |
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