Case Report
JBCGenetics. 2020; 3(1): 36-40

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

Authors: Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1580893176

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.

Keywords:   Case report, mitochondrial diseases, hepatocerebral, syndrome, mitochondrial DNA depletion syndromes


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


Authors
Maher Mohammed Al-Hatlani
Division of Gastroenterology and Hepatology, Department of Pediatrics, Imam Abdulrahman Al Faisal Hospital, National Guard Health Affairs (NGHA) Dammam, Saudi Arabia
PubMed articlesGoogle scholar articles

Sharifah Ahmed Othman
MBBS, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
. Maher Mohammed Al-Hatlani, Division of Gastroenterology and Hepatology, Department of Pediatrics, Imam Abdulrahman Al Faisal Hospital, National Guard Health Affairs (NGHA) Dammam, Saudi Arabia.; alhatlanima@NGHA.MED.SA

Publication history
Received 05 Feb 2020
Revised 04 Apr 2020
Accepted 13 Apr 2020
Published online 22 Apr 2020
Published in print 27 May 2020

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: October 27, 2020]. 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 October 27, 2020]; 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


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