Case Report
JBCGenetics. 2022; 5(2):

A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.

Authors: Abdulla Alblooshi, Aisha Al-Shamsi.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1645370249

Abstract

Background: Single gene mutations are important causes of glomerular disease in children. Of these genes, mutations in the FAT1 gene have been recently described in the literature as a cause of nephropathy in isolated form or multi-system involvement. The spectrum of renal disease associated with FAT1 gene mutations varies from asymptomatic proteinuria and hematuria to severe nephrotic syndrome and end-stage renal disease. Case Presentation: In this case report, we describe a 3-year-old child and two other family members with a novel frameshift homozygous mutation in the FAT1 gene consistent with the diagnosis of autosomal recessive colobomatous-microphthalmia, ptosis, nephropathy and syndactyly syndrome with variable expression of the phenotype. Conclusion: This report adds to the genotype-phenotype correlation, highlighting the clinical importance of considering FAT1 gene defects as part of the differential diagnosis for congenital ptosis, syndactyly and nephropathy, especially with multiple affected family members.

Keywords:   FAT1 gene, ptosis, nephropathy, syndactyly, hearing loss


© Copyright: Author(s)

A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.


Authors
Abdulla Alblooshi
Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates
PubMed articlesGoogle scholar articles

Aisha Al-Shamsi
Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates
PubMed articlesGoogle scholar articles


Correspondence to:
. Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates; abdulla832@hotmail.com

Publication history
Received 25 Feb 2022
Revised 22 Apr 2022
Accepted 09 May 2022
Published online 30 Jun 2022

How to cite this article

Pubmed Style

Alblooshi A, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. JBCGenetics. Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


Web Style

Alblooshi A, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. https://www.jbcgenetics.com//?mno=84531 [Access: October 02, 2022]. doi:10.24911/JBCGenetics/183-1645370249


AMA (American Medical Association) Style

Alblooshi A, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. JBCGenetics. Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


Vancouver/ICMJE Style

Alblooshi A, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. JBCGenetics, [cited October 02, 2022]; Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


Harvard Style

Alblooshi, A. & Al-Shamsi, . A. (2022) A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. JBCGenetics, Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


Turabian Style

Alblooshi, Abdulla, and Aisha Al-Shamsi. 2022. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. Journal of Biochemical and Clinical Genetics, Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


Chicago Style

Alblooshi, Abdulla, and Aisha Al-Shamsi. "A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.." Journal of Biochemical and Clinical Genetics Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


MLA (The Modern Language Association) Style

Alblooshi, Abdulla, and Aisha Al-Shamsi. "A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.." Journal of Biochemical and Clinical Genetics Online First: 30 Jun, 2022. Web. 02 Oct 2022 doi:10.24911/JBCGenetics/183-1645370249


APA (American Psychological Association) Style

Alblooshi, A. & Al-Shamsi, . A. (2022) A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy and syndactyly in Emirati family: case report and literature review.. Journal of Biochemical and Clinical Genetics, Online First: 30 Jun, 2022. doi:10.24911/JBCGenetics/183-1645370249


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