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:: Volume 4, Issue 2 (Int Biol Biomed J (In press) 2018) ::
IBBJ 2018, 4(2): 0-0 Back to browse issues page
The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree
Atieh Eslahi 1, Farah Ashrafzadeh 2, Kazem Hasanpour 3, Majid Mojarrad * 4, Nedasadat Hosseini 1
1- Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
2- Department of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
3- Department of Clinical Sciences, Sabzevar University of Medical Sciences, Sabzevar, Iran.
4- Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , majidmojarrad@gmail.com
Abstract:   (116 Views)
Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good choice for finding a disease locus. Herein we report a female patient with a novel mutation in HGSNAT gene in Iranian population. Clinical diagnosis was accomplished based on clinical manifestations, and urine biochemical analysis. Homozygosity mapping was performed using SNP- array technology to narrow down the candidate locus. All coding exons of HGSNAT were scanned by direct DNA sequencing. We found a novel ins/del mutation as c.1357TA>C. This mutation is a frameshift which eventually leads to premature protein truncation. To the best of our knowledge this is the first case report of Sanfilippo type C in Iranian population. This result also supports the applicability of homozygosity mapping to the diagnosis of Sanfilippo subtype.
Keywords: Mucopolysaccharidosis type IIIC, HGSNAT, homozygosity mapping, SNP-array, mutation detection
     
Type of Study: Case Report | Subject: Genetics & Disease
Received: 2018/04/10 | Accepted: 2018/05/24 | Published: 2018/07/19
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Eslahi A, Ashrafzadeh F, Hasanpour K, Mojarrad M, Hosseini N. The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree. IBBJ. 2018; 4 (2)
URL: http://ibbj.org/article-1-176-en.html


Volume 4, Issue 2 (Int Biol Biomed J (In press) 2018) Back to browse issues page
International Biological and Biomedical Journal
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