Published in: 12th Congress of Iranian Genetics Society
COI code: CIGS13_0262
Paper Language: English
How to Download This Paper
For Downloading the Fulltext of CIVILICA papers please visit the orginal Persian Section of website.
Authors Molecular characterization of MPS IIIA, MPS IIIB in Iranian patientsVadieh Ghodsinejad Kalahroudi - Medical Genetics Department, Special Medical Center, Tehran, Iran
Omid Aryani - Medical Genetics Department, Special Medical Center, Tehran, Iran
Massoud Houshmand - Medical Genetics Department, Special Medical Center, Tehran, Iran Medical Genetics Department,National Institute for Genetic Engineering and Biotechnology, Tehran, Iran
Abstract:Mucopolysaccharidosis III (MPS III), also known as Sanfilippo syndrome belongs to a group of lysosomal storage diseases(LSD ) , is an autosomal recessive disorder. MPS III caused by an impairment of degradation of heparan sulfate, one of glycosaminoglycans (GAGs).The patients present with tissue heparan sulphate accumulation and abnormal excretion in urine. This syndrome is characterized by severe, early and progressive central nervous system degeneration with mildsomatic involvement. Onset of clinical features usually occurs between 2 and 6 years of age, with behavioural disturbances(aggressiveness, hyperactivity, insomnia), psychomotor delay and poor speech development .Most patients die of end-stageneurodegenerative disease by the end of the second decade. Birth prevalences of 0.28 to 4.1 per 100,000 have been reported. MPS III includes 4 subtypes, types A to D, each of which results from a specific impaired lysosomal enzyme. MPS-IIIA and MPS-IIIB involve deficiencies of heparan sulfate sulfamidase (SGSH) and α -N-acetylglucosaminidase (NAGLU),respectively. In this study, screening of SGSH and NAGLU genes using PCR -sequencing analysis on genomic DNA fragments was performed in three Iranian patients with MPS IIIA and tow with MPS IIIB.These approaches allowed the identification of 3 missense mutations, including c.364G>A and c.448C>T homozygous mutations in the SGSH gene , and c.2045T>G homozygous mutation in the NAGLU gene.
Keywords:Sanfilippo syndrome, MPS-IIIA,MPS-IIIB, SGSH,NAGLU
COI code: CIGS13_0262
how to cite to this paper:If you want to refer to this article in your research, you can easily use the following in the resources and references section:
Ghodsinejad Kalahroudi, Vadieh; Omid Aryani & Massoud Houshmand, 2014, Molecular characterization of MPS IIIA, MPS IIIB in Iranian patients, 12th Congress of Iranian Genetics Society, تهران, انجمن ژنتيك ايران, https://www.civilica.com/Paper-CIGS13-CIGS13_0262.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Ghodsinejad Kalahroudi, Vadieh; Omid Aryani & Massoud Houshmand, 2014)
Second and more: (Ghodsinejad Kalahroudi; Aryani & Houshmand, 2014)
For a complete overview of how to citation please review the following CIVILICA Guide (Citation)
Research Info Management
Export Citation info of this paper to research management softwares
New Related Papers
- Association between genetic polymorphism of catalase (CAT) C-262T, Cu/Zn superoxide dismutase (SOD1) A251G and risk of Age-related macular degeneration (AMD)
- Regional variation in subclade of Leptosphaeria biglobosa
- Genetic study of external egg quality traits of native chicken of North of Iran
- Associated between insertion/deletion polymorphism of MDM2 and risk of breast cancer in an Iranian population
- Bioinformatic Analysis of Homo sapiens ArfGAP with FG repeats 1 (AGFG1)
The Above articles are recently indexed in the related subjects
Iran Scientific Advertisment Netword
Share this paper
WHAT IS COI?
COI is a national code dedicated to all Iranian Conference and Journal Papers. the COI of each paper can be verified online.