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:: Volume 20, Issue 2 (summer 2021) ::
J Ardabil Univ Med Sci 2021, 20(2): 222-231 Back to browse issues page
Molecular Analysis of GALNS Gene in eight Iranian Patients with Mucopolysaccharidosis IVA
Seyed Hosseiali Saberi , Behnam Kamalidehghan , Shahla Farshidi , Seyed Masoud Houshmand Dr. , Roshanak Jazayeri
Non-Communicable Diseases Research Center, Faculty of Medicine, Alborz University of Medical Sciences, Karaj, Iran
Abstract:   (180 Views)
Background & objectives: Mucopolysaccharidosis IVA (Morquio syndrome type A) is a lysosomal storage disorder caused by a mutation in the GALNS gene located on chromosome 16q24.3 and is inherited in an autosomal recessive manner. To date, more than 300 different mutations associated with MPS IVA, have been reported. Mutational heterogeneity can lead to difficulties in interpretation of molecular testing results, as novel mutations/variants of unknown significance may be detected relatively frequently. The purpose of this study is to analyze the GALNS mutations in Iranian MPS IVA patients.
Methods: Mutation screening of the GALNS gene was performed using direct sequence analysis on DNA samples from 8 unrelated Iranian MPS IVA patients.
Results: We have identified three novels and four previously reported mutations in 8 Iranian patients. We identified three novel missense mutations including: c.680T>C (p.F227S) in exon 7, c.G949C (p.G317R) and c.956G>C (p.R319T) in exon 9 in three different Iranian MPS IVA patients.  Bioinformatics analysis predicted the novel mutations as being disease-causing.
Conclusion: Our findings indicate the molecular heterogeneity of GALNS gene in Iranian patients. We also managed to find three new mutations of MPS IVA in Iranian patients, which are helpful in diagnosis, genetic counseling and prenatal diagnosis in affected families
Keywords: Mucopolysaccharidosis Type IVA, GALNS Gene, Mutation Screening, Genetic Counseling
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Type of Study: article | Subject: ژنتیک و پزشکی مولکولی
Received: 2020/07/27 | Accepted: 2021/01/29 | Published: 2021/01/29
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Saberi S H, Kamalidehghan B, Farshidi S, Houshmand S M, Jazayeri R. Molecular Analysis of GALNS Gene in eight Iranian Patients with Mucopolysaccharidosis IVA. J Ardabil Univ Med Sci. 2021; 20 (2) :222-231
URL: http://jarums.arums.ac.ir/article-1-1891-en.html

Volume 20, Issue 2 (summer 2021) Back to browse issues page
مجله دانشگاه علوم پزشکی اردبیل Journal of Ardabil University of Medical Sciences
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