Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability

  • Negin Parsamanesh
  • Hossein Safarpour
  • Shokoofe Etesam
  • Aazam Ahmadi ShadmehriEmail author
  • Ebrahim Miri-MoghaddamEmail author


Intellectual disability (ID) is characterized by limited mental ability and adaptive behavior that imposes a heavy burden on the patients’ families and the health care system. This study was aimed at determining the molecular aspect of nonsyndromic ID, in a family from South Khorasan Province in Iran. Exome sequencing was performed, as well as complete clinical examinations of the family. Afterward, in silico studies have been done to examine the changes that occurred in the protein structure, in association with the ID phenotype. The PIGG (NC_000004.12) mutation was found on Chr 4:517639G>A, and this chromosomal location was proposed as the disorder-causing variant. This Arg658Gln alteration was confirmed by Sanger sequencing, using specific primers for PIGG. In conclusion, our study indicated a novel mutation in the PIGG in the affected family. This mutation is a novel variant (p. R658Q) with an autosomal recessive inheritance pattern. These findings could improve genetic counseling in the future.


Intellectual disability Whole-exome sequencing In silico South Khorasan 



The authors thank all the subjects who willingly participated in this research.

Funding Information

This work was financially supported by a research grant from Birjand University of Medical Science.

Compliance with Ethical Standards

A clinical geneticist obtained all exams and informed consent from every member of the family. In this study, the entire procedures were conducted according to the Helsinki Declaration and ethical standards of the institutional research committee. The ethics code was taken from Birjand University of Medical Sciences (Ir.bums. REC.1396.350).

Conflict of Interest

The authors declare that they have no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Student Research Committee & Department of Molecular MedicineBirjand University of Medical SciencesBirjandIran
  2. 2.Cellular and Molecular Sciences Research CenterBirjand University of Medical SciencesBirjandIran
  3. 3.Nikou Counseling CenterSocial Welfare Organization of South Khorasan ProvinceBirjandIran
  4. 4.Social Welfare Organization of South Khorasan ProvinceBirjandIran
  5. 5.Cardiovascular Diseases Research Center & Department of Molecular Medicine, School of MedicineBirjand University of Medical SciencesBirjandIran

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