Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c. 313A>G in the Iranian Population

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

Shafaat Seyed Mehdi; HASHEMI MEHRDAD; MAJD AHMAD; Abiri Maryam; ZEINALI SIROUS

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Internal Medicine Today Year:2020 | Volume:26 | Issue:2 Page(s): 182-191

Download Full-Text

Persian Verion

View:

727

Download:

391

Cites:

Information Journal Paper

Title

Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c. 313A>G in the Iranian Population

Author(s)

Keywords

MucopolysaccharidosisQ1

MPSQ1

Morquio a SyndromeQ1

NGSQ1

Abstract

Aims Morquio syndrome is a Mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1 per 200000 live births globally. Besides, Middle Eastern cases shape the greatest ratio, due to higher rates of consanguineous marriages. The most frequent clinical manifestations of the disease include skeletal abnormalities, hearing and vision problems, decreased physical growth, and cardiac malformations. Methods & Materials This study investigated the pathogenic mutations in two Iranian individuals. Both cases were the result of consanguineous marriages with Mucopolysaccharidosis type 4 (A or B types, each). Following of genomic DNA extraction, Whole Exome Sequencing was conducted for the study patients. Then, for the validation of observed pathogenic mutations, sanger sequencing was performed for the patients. FindiNGS Two explored patients demonstrated homozygote mutations. Mutation analysis of the GLB1 gene revealed c. 443G>A mutation in one patient and GALNS gene c. 313A>G in the other. Conclusion Two pathogenic mutations in GLB1 and GALNS gene were found in 2 Iranian patients in this study. The NGS was a desirable and reliable technique for detecting these two mutations. The c. 313A> G mutation in the GALNS gene was novel and had not been reported in the world.

Cites

Molecular Analysis of GALNS Gene in eight Iranian Patients with Mucopolysaccharidosis IVA

References

Cite

APA: Copy

Shafaat, Seyed Mehdi, HASHEMI, MEHRDAD, MAJD, AHMAD, Abiri, Maryam, & ZEINALI, SIROUS. (2020). Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c. 313A>G in the Iranian Population. OFOGH-E-DANESH, 26(2 ), 182-191. SID. https://sid.ir/paper/406793/en

Vancouver: Copy

Shafaat Seyed Mehdi, HASHEMI MEHRDAD, MAJD AHMAD, Abiri Maryam, ZEINALI SIROUS. Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c. 313A>G in the Iranian Population. OFOGH-E-DANESH[Internet]. 2020;26(2 ):182-191. Available from: https://sid.ir/paper/406793/en

IEEE: Copy

Seyed Mehdi Shafaat, MEHRDAD HASHEMI, AHMAD MAJD, Maryam Abiri, and SIROUS ZEINALI, “Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c. 313A>G in the Iranian Population,” OFOGH-E-DANESH, vol. 26, no. 2 , pp. 182–191, 2020, [Online]. Available: https://sid.ir/paper/406793/en

Related Journal Papers