Original Article
Volume: 6 | Issue: 1 | Published: Mar 23, 2023 | Pages: 22 - 28 | DOI: 10.24911/JBCGenetics/183-1673224261
Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene
Authors: Anam Nayab , Shagufta Andleeb , Shah Zeb , Hafiza Yasmin Manzoor , Zamrud Zehri , Arif Mahmood , Hammal Khan , Muhammad Umair , Ahmed Waqas
Article Info
Authors
Anam Nayab
Department of Biotechnology, Fatima Jinnah Women University, Rawalpindi, Pakistan
Shagufta Andleeb
Department of Zoology, Division of Science and Technology, University of Education, Lahore, Pakistan
Shah Zeb
Institute for Advanced Study, Shenzhen University, Shenzhen, People's Republic of China, College of Physics and Optoelectronics Engineering, Shenzhen University, Shenzhen, People's Republic of China
Hafiza Yasmin Manzoor
Department of laboratory, Carle Foundation Hospital, 611 W Park St, Urbana, IL 61801, USA
Zamrud Zehri
Department of Gynecology and Obstetrics, Civil Hospital Quetta, Pakistan
Arif Mahmood
Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China
Hammal Khan
Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan
Muhammad Umair
Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, 22209, Pakistan
Ahmed Waqas
Department of Zoology, Division of Science and Technology, University of Education, Lahore, Pakistan.
Publication History
Received: January 30, 2023
Accepted: March 01, 2023
Published: March 23, 2023
Abstract
Background: Glycosylphosphatidylinositol (GPI) is a glycolipid containing phosphatidylinositol related to the protein surfaces by covalent attachment. Inherited GPI deficiencies have various phenotypic chrematistics, which range from intellectual disability to dysmorphic features, epilepsy, and other severe anomalies. Methods: Molecular diagnosis was performed using whole exome sequencing (WES) followed by Sanger sequencing. Results: WES revealed a novel homozygous nonsense variant (c.250C>T; p.Gln84Ter) in the exon 2 of the phosphatidylinositol glycan anchor biosynthesis class Ogene that might explain the disease phenotype in the patient. Conclusion: This study will help in proper genetic counselling of the family and help in genotype-phenotype correlation in the future.
Keywords: GPI, WES, missense variant, PIGO, ID, novel variant
