E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
22 / 04 / 2020

 


A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report

Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman.


Abstract
Background: Mitochondrial DNA-depletion syndromes (MDDS) usually present with a wide spectrum of clinical manifestations, such as weakness, hypotonia, developmental delay, and/or seizures, and are categorized as myopathic, encephalomyopathic, hepatocerebral, or multisystemic. The condition is typically fatal in infancy and early childhood although some with the myopathic variant have survived to their teenage years and some with the SUCLA2 encephalomyopathic variant have survived into adulthood. There is currently no curative treatment for any form of MDDS.
Case Presentation: A female patient born at 37 weeks presented with intrauterine growth restriction, the infant was found to have jaundice, cataract, and metabolic diseases were suspected. Patient's liver enzymes continued to measure twice as high for the patient's age and the patient presented with mild cholestasis. At the age of 2 months, the patient was brought back by the parents because of fever, persistent crying, poor oral intake, and bloody stool. The following observations were noted: progressive liver failure, severe coagulopathy, ascites associated with the development of spontaneous bacterial peritonitis. Then, a homozygous variant c.763-766dup p.(Phe256*) in DGUOK was discovered.
Conclusion: We report a novel homozygous variant c.763_766dup p.(Phe256*) mutation discovered in the DGUOK gene (OMIM: 601465), causing fatal progressive liver failure in a three-month-old Saudi infant of asymptomatic consanguineous parents. This genotype is associated with a severe clinical presentation, and the infant died at the age of 3 months.

Key words: Case report, mitochondrial diseases, hepatocerebral, syndrome, mitochondrial DNA depletion syndromes


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Maher Mohammed Al-Hatlani
Articles by Sharifah Ahmed Othman
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Al-Hatlani MM, Othman SA. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. JBCGenetics. 2020; 3(1): 36-40. doi:10.24911/JBCGenetics/183-1580893176


Web Style

Al-Hatlani MM, Othman SA. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. https://www.jbcgenetics.com/?mno=85551 [Access: March 13, 2024]. doi:10.24911/JBCGenetics/183-1580893176


AMA (American Medical Association) Style

Al-Hatlani MM, Othman SA. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. JBCGenetics. 2020; 3(1): 36-40. doi:10.24911/JBCGenetics/183-1580893176



Vancouver/ICMJE Style

Al-Hatlani MM, Othman SA. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. JBCGenetics. (2020), [cited March 13, 2024]; 3(1): 36-40. doi:10.24911/JBCGenetics/183-1580893176



Harvard Style

Al-Hatlani, M. M. & Othman, . S. A. (2020) A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. JBCGenetics, 3 (1), 36-40. doi:10.24911/JBCGenetics/183-1580893176



Turabian Style

Al-Hatlani, Maher Mohammed, and Sharifah Ahmed Othman. 2020. A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. Journal of Biochemical and Clinical Genetics, 3 (1), 36-40. doi:10.24911/JBCGenetics/183-1580893176



Chicago Style

Al-Hatlani, Maher Mohammed, and Sharifah Ahmed Othman. "A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report." Journal of Biochemical and Clinical Genetics 3 (2020), 36-40. doi:10.24911/JBCGenetics/183-1580893176



MLA (The Modern Language Association) Style

Al-Hatlani, Maher Mohammed, and Sharifah Ahmed Othman. "A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report." Journal of Biochemical and Clinical Genetics 3.1 (2020), 36-40. Print. doi:10.24911/JBCGenetics/183-1580893176



APA (American Psychological Association) Style

Al-Hatlani, M. M. & Othman, . S. A. (2020) A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report. Journal of Biochemical and Clinical Genetics, 3 (1), 36-40. doi:10.24911/JBCGenetics/183-1580893176





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]