E-ISSN 1658-8088 | ISSN 1658-807X
 

Original Article 


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.


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Anam Nayab
Articles by Shagufta Andleeb
Articles by Shah Zeb
Articles by Hafiza Yasmin Manzoor
Articles by Zamrud Zehri
Articles by Arif Mahmood
Articles by Hammal Khan
Articles by Muhammad Umair
Articles by Ahmed Waqas
on Google
on Google Scholar


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: December 04, 2023]. 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 December 04, 2023]; 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





Most Viewed Articles
Most Accessed Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • The role of C-terminal tensin-like (Cten) gene in cancer metastasis
    Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
    JBCGenetics. 2018; 1(1): 2-9
    » Abstract » doi: 10.24911/JBCGenetics/183-1531548689

  • Clinical reassessment of post-laboratory variant call format (VCF) files
    Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
    JBCGenetics. 2018; 1(1): 31-36
    » Abstract » doi: 10.24911/JBCGenetics/183-1529928114

  • Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
    AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
    JBCGenetics. 2018; 1(1): 37-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1530040885

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Most Downloaded
    Top Downloaded Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389

  • Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
    Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
    JBCGenetics. 2019; 2(1): 28-39
    » Abstract » doi: 10.24911/JBCGenetics/183-1542047633

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257

  • Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
    Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
    JBCGenetics. 2018; 1(1): 40-42
    » Abstract » doi: 10.24911/JBCGenetics/183-1531469195

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923

  • Most Cited Articles
    Most Cited Articles

  • Frontonasal dysplasia: a review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
    JBCGenetics. 2018; 1(2): 66-76
    » Abstract » doi: 10.24911/JBCGenetics/183-1530765389
    Cited : 4 times [Click to see citing articles]

  • Syndactyly genes and classification: a mini review
    Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
    JBCGenetics. 2018; 1(1): 10-18
    » Abstract » doi: 10.24911/JBCGenetics/183-1532177257
    Cited : 4 times [Click to see citing articles]

  • Genomics in Saudi Arabia Call for Data-Sharing Policy
    Ahmed Alfares,
    JBCGenetics. 2018; 1(2): 51-52
    » Abstract » doi: 10.24911/JBCGenetics/183-1546945268
    Cited : 4 times [Click to see citing articles]

  • Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
    Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
    JBCGenetics. 2021; 4(1): 27-34
    » Abstract » doi: 10.24911/JBCGenetics/183-1601264923
    Cited : 2 times [Click to see citing articles]

  • Harel-Yoon syndrome: the first case report from Saudi Arabia
    Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
    JBCGenetics. 2020; 3(1): 22-27
    » Abstract » doi: 10.24911/JBCGenetics/183-1585816398
    Cited : 2 times [Click to see citing articles]