E-ISSN 1658-8088 | ISSN 1658-807X
 

Original Article

Online Publishing Date:
23 / 03 / 2023

 


Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene

Anam Nayab, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, Ahmed Waqas.


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.

Key words: GPI, WES, missense variant, PIGO, ID, novel variant.


 
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How to Cite this Article
Pubmed Style

Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics. 2023; 6(1): 22-28. doi:10.24911/JBCGenetics/183-1673224261


Web Style

Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. https://www.jbcgenetics.com/?mno=137867 [Access: March 13, 2024]. doi:10.24911/JBCGenetics/183-1673224261


AMA (American Medical Association) Style

Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics. 2023; 6(1): 22-28. doi:10.24911/JBCGenetics/183-1673224261



Vancouver/ICMJE Style

Nayab A, Andleeb S, Zeb S, Manzoor HY, Zehri Z, Mahmood A, Khan H, Umair M, Waqas A. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics. (2023), [cited March 13, 2024]; 6(1): 22-28. doi:10.24911/JBCGenetics/183-1673224261



Harvard Style

Nayab, A., Andleeb, . S., Zeb, . S., Manzoor, . H. Y., Zehri, . Z., Mahmood, . A., Khan, . H., Umair, . M. & Waqas, . A. (2023) Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. JBCGenetics, 6 (1), 22-28. doi:10.24911/JBCGenetics/183-1673224261



Turabian Style

Nayab, Anam, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, and Ahmed Waqas. 2023. Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. Journal of Biochemical and Clinical Genetics, 6 (1), 22-28. doi:10.24911/JBCGenetics/183-1673224261



Chicago Style

Nayab, Anam, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, and Ahmed Waqas. "Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene." Journal of Biochemical and Clinical Genetics 6 (2023), 22-28. doi:10.24911/JBCGenetics/183-1673224261



MLA (The Modern Language Association) Style

Nayab, Anam, Shagufta Andleeb, Shah Zeb, Hafiza Yasmin Manzoor, Zamrud Zehri, Arif Mahmood, Hammal Khan, Muhammad Umair, and Ahmed Waqas. "Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene." Journal of Biochemical and Clinical Genetics 6.1 (2023), 22-28. Print. doi:10.24911/JBCGenetics/183-1673224261



APA (American Psychological Association) Style

Nayab, A., Andleeb, . S., Zeb, . S., Manzoor, . H. Y., Zehri, . Z., Mahmood, . A., Khan, . H., Umair, . M. & Waqas, . A. (2023) Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene. Journal of Biochemical and Clinical Genetics, 6 (1), 22-28. doi:10.24911/JBCGenetics/183-1673224261





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