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

Abdulla Al Blooshi; Aisha Al-Shamsi

doi:10.24911/JBCGenetics/183-1645370249

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Case Report
Online Published: 30 Jun 2022

JBCGenetics. 2022; 5(1): 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

Abdulla Al Blooshi, Aisha Al-Shamsi.

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.

Key words: FAT1 gene, ptosis, nephropathy, syndactyly, hearing loss.

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Pubmed Style

Blooshi AA, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBCGenetics. 2022; 5(1): 29-34. doi:10.24911/JBCGenetics/183-1645370249

Web Style

Blooshi AA, Al-Shamsi A. 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/?mno=84531 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1645370249

AMA (American Medical Association) Style

Blooshi AA, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBCGenetics. 2022; 5(1): 29-34. doi:10.24911/JBCGenetics/183-1645370249

Vancouver/ICMJE Style

Blooshi AA, Al-Shamsi A. A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBCGenetics. (2022), [cited November 14, 2024]; 5(1): 29-34. doi:10.24911/JBCGenetics/183-1645370249

Harvard Style

Blooshi, A. A. & Al-Shamsi, . A. (2022) A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. JBCGenetics, 5 (1), 29-34. doi:10.24911/JBCGenetics/183-1645370249

Turabian Style

Blooshi, Abdulla Al, and 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. Journal of Biochemical and Clinical Genetics, 5 (1), 29-34. doi:10.24911/JBCGenetics/183-1645370249

Chicago Style

Blooshi, Abdulla Al, and 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." Journal of Biochemical and Clinical Genetics 5 (2022), 29-34. doi:10.24911/JBCGenetics/183-1645370249

MLA (The Modern Language Association) Style

Blooshi, Abdulla Al, and 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." Journal of Biochemical and Clinical Genetics 5.1 (2022), 29-34. Print. doi:10.24911/JBCGenetics/183-1645370249

APA (American Psychological Association) Style

Blooshi, A. A. & Al-Shamsi, . A. (2022) A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review. Journal of Biochemical and Clinical Genetics, 5 (1), 29-34. doi:10.24911/JBCGenetics/183-1645370249

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