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Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene

[ Vol. 19 , Issue. 2 ]

Author(s):

Hina Ishtiaq, Sonia Siddiqui*, Rukhsana Nawaz, Khawar Saeed Jamali and Abdul Ghani Khan   Pages 127 - 141 ( 15 )

Abstract:


Background: Sialuria is a rare inborn error of metabolism caused by excessive synthesis of sialic acid due to the mutation in the binding site of the cytidine monophosphate-sialic acid of UDPGlcNAc 2-Epimerase/ManNAc Kinase (GNE/MNK).

Objective: This is the first study investigating the molecular basis of neuronal disorders exhibiting sialuria in Pakistani children/adolescents.

Methods: The current study genotyped GNE SNPs rs121908621, rs121908622 and rs121908623 by using PCR, RFLP, and DNA sequencing methods. Socioeconomic and clinical histories were also recorded.

Results: Our data suggest that clinical symptoms and financial status play a significant role in conferring sialuria related Intellectual Disability (ID). SNP: rs121908623 showed G/A substitution (R263Q) in the GNE gene.

Conclusion: We have identified one case study in Pakistan, so this makes our research a leap forward towards the identification of the 10th case study worldwide.

Keywords:

Sialuria, intellectual disability, single nucleotide polymorphism, arginine (R), glutamine (Q), metabolic error.

Affiliation:

Department of Neuroscience, Dr. Panjwani Center For Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi-75270, Department of Neuroscience, Dr. Panjwani Center For Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi-75270, Pakistan & Dow University of Health Sciences, Karachi-75290 , Department of Psychology, College of Humanities and Social Sciences, University of UAE, Al-Ain, Department of Surgery, Dow University of Health Sciences, Karachi-75290, Department of Neuropsychiatry and Rehabilitation, National Institute of Child Health, Jinnah Post Graduate Medical Center, Karachi-75510



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