JBCGenetics |

Case Report

Volume: 5 | Issue: 1 | Published: Jun 30, 2022 | Pages: 29 - 34 | DOI: 10.24911/JBCGenetics/183-1645370249

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

Authors: Abdulla Al Blooshi , Aisha Al-Shamsi

Article Info

Authors

Abdulla Al Blooshi

Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates

ORCID

Aisha Al-Shamsi

Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates.

ORCID

Publication History

Received: February 25, 2022

Revised: April 22, 2022

Accepted: May 09, 2022

Published: June 30, 2022

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 multisystem 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

Pubmed Style

Abdulla Al Blooshi, Aisha Al-Shamsi. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBC Genetics. 2022; 30 (June 2022): 29-34. doi:10.24911/JBCGenetics/183-1645370249

Web Style

Abdulla Al Blooshi, Aisha Al-Shamsi. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. https://www.jbcgenetics.com/articles/2104 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1645370249

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Abdulla Al Blooshi, Aisha Al-Shamsi. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBC Genetics. (2022), [cited April 27, 2025]; 30 (June 2022): 29-34. doi:10.24911/JBCGenetics/183-1645370249

Harvard Style

Abdulla Al Blooshi, Aisha Al-Shamsi (2022) A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBC Genetics, 30 (June 2022): 29-34. doi:10.24911/JBCGenetics/183-1645370249

Chicago Style

Abdulla Al Blooshi, Aisha Al-Shamsi. "A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review." 30 (2022), 29-34. doi:10.24911/JBCGenetics/183-1645370249

MLA (The Modern Language Association) Style

Abdulla Al Blooshi, Aisha Al-Shamsi. "A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review." 30.June 2022 (2022), 29-34. Print. doi:10.24911/JBCGenetics/183-1645370249

APA (American Psychological Association) Style

Abdulla Al Blooshi, Aisha Al-Shamsi (2022) A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. , 30 (June 2022), 29-34. doi:10.24911/JBCGenetics/183-1645370249