Case Report
JBCGenetics. 2021; 4(2): 115-117

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report

Authors: Ahmed Awad AbuAlreesh, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, Zuhair Rahbeeni.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1612612814

Abstract

Background: Peroxisomes are cells' organelles that responsible for the metabolism of branched-chain and very-long-chain fatty acids (VLCFA), polyamines, and amino acids. Peroxisomal biogenesis factor 6 (PEX6) is one of the factors required for the import of the proteins into peroxisomes. Mutation in any one of PEX genes will result in Zellweger syndrome (ZS), one of the peroxisome biogenesis disorder. Case Presentation: A 11-year-old girl referred was with central hypotonia and global developmental delay and feeding problems. She has an open and flat fontanel. Liver function tests and thyroid-stimulating hormone were elevated. Plasma VLCFA C26, VLCFA C24/C22, and VLCFA C26/C22 were elevated. Cerebrospinal fluid flow artifact and posterior displacement of the basilar artery findings raised the possibility of increased intracranial pressure. X-ray showed mild irregularity in the end plates of the lumbar vertebrae, bilateral coxa valga, irregularity in the articular surfaces of the ossified epiphysis of the upper and lower limbs, and generalized osteopenia. The audiological assessment profound hearing loss in both ears. Inborn error of metabolism, next-generation sequencing gene panel analysis, and whole exome sequencing showed that no pathogenic or likely pathogenic variants explaining the phenotypes. The single nucleotide polymorphisms testing showed a deletion in PEX6 gene (homozygous variant of uncertain significance). Conclusion: We report a case of ZS associated with a new PEX6 mutation that has not been previously reported in the literature.

Keywords:   Peroxisome biogenesis disorder, PEX6 gene, Saudi Arabia, VLCFA, Zellweger syndrome


© Copyright: Author(s)

Saudi patient with peroxisome biogenesis disorder with novel variant: a case report


Authors
Ahmed Awad AbuAlreesh
Pharmacy Department, Dr. Sulaiman Al Habib Olaya Medical Complex, Dr. Sulaiman Alhabib Medical Group, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Rayah Mohamed Asiri
College of Pharmacy, King Khalid University, Abha, Saudi Arabia
PubMed articlesGoogle scholar articles

Abeer Awad AbuAlreesh
Department of Family Medicine, Al-Shifa Hospital, Ministry of Health, Gaza Strip, Palestine
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Zuhair Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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Correspondence to:
. Ahmed Abualreesh, Pharmacy Department, Dr. Sulaiman Al Habib Olaya Medical Complex, Dr. Sulaiman Al Habib Medical Group, Riyadh, Saudi Arabia.; ahmedaboalreesh1989@gmail.com

Publication history
Received 06 Feb 2021
Revised 05 May 2021
Accepted 22 May 2021
Published online 14 Jun 2021
Published in print 28 Aug 2021

How to cite this article

Pubmed Style

AbuAlreesh AA, Asiri RM, AbuAlreesh AA, Rahbeeni Z. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. JBCGenetics. 2021; 4(2): 115-117. doi:10.24911/JBCGenetics/183-1612612814


Web Style

AbuAlreesh AA, Asiri RM, AbuAlreesh AA, Rahbeeni Z. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. https://www.jbcgenetics.com//?mno=53032 [Access: December 08, 2021]. doi:10.24911/JBCGenetics/183-1612612814


AMA (American Medical Association) Style

AbuAlreesh AA, Asiri RM, AbuAlreesh AA, Rahbeeni Z. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. JBCGenetics. 2021; 4(2): 115-117. doi:10.24911/JBCGenetics/183-1612612814


Vancouver/ICMJE Style

AbuAlreesh AA, Asiri RM, AbuAlreesh AA, Rahbeeni Z. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. JBCGenetics. (2021), [cited December 08, 2021]; 4(2): 115-117. doi:10.24911/JBCGenetics/183-1612612814


Harvard Style

AbuAlreesh, A. A., Asiri, . R. M., AbuAlreesh, . A. A. & Rahbeeni, . Z. (2021) Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. JBCGenetics, 4 (2), 115-117. doi:10.24911/JBCGenetics/183-1612612814


Turabian Style

AbuAlreesh, Ahmed Awad, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, and Zuhair Rahbeeni. 2021. Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. Journal of Biochemical and Clinical Genetics, 4 (2), 115-117. doi:10.24911/JBCGenetics/183-1612612814


Chicago Style

AbuAlreesh, Ahmed Awad, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, and Zuhair Rahbeeni. "Saudi patient with peroxisome biogenesis disorder with novel variant: a case report." Journal of Biochemical and Clinical Genetics 4 (2021), 115-117. doi:10.24911/JBCGenetics/183-1612612814


MLA (The Modern Language Association) Style

AbuAlreesh, Ahmed Awad, Rayah Mohamed Asiri, Abeer Awad AbuAlreesh, and Zuhair Rahbeeni. "Saudi patient with peroxisome biogenesis disorder with novel variant: a case report." Journal of Biochemical and Clinical Genetics 4.2 (2021), 115-117. Print. doi:10.24911/JBCGenetics/183-1612612814


APA (American Psychological Association) Style

AbuAlreesh, A. A., Asiri, . R. M., AbuAlreesh, . A. A. & Rahbeeni, . Z. (2021) Saudi patient with peroxisome biogenesis disorder with novel variant: a case report. Journal of Biochemical and Clinical Genetics, 4 (2), 115-117. doi:10.24911/JBCGenetics/183-1612612814


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