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:: دوره 4، شماره 2 - ( 12-1396 ) ::
جلد 4 شماره 2 صفحات 117-121 برگشت به فهرست نسخه ها
The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree
چکیده:   (4930 مشاهده)
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.
     
نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: 1397/1/21 | پذیرش: 1397/3/3 | انتشار: 1397/4/28
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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) :117-121
URL: http://ibbj.org/article-1-176-fa.html

The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree. . 1396; 4 (2) :117-121

URL: http://ibbj.org/article-1-176-fa.html



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دوره 4، شماره 2 - ( 12-1396 ) برگشت به فهرست نسخه ها
International Biological and Biomedical Journal
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