A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review
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 FAT...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2022-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=84531 |
| _version_ | 1797816613627494400 |
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| author | Abdulla Al Blooshi Aisha Al-Shamsi |
| author_facet | Abdulla Al Blooshi Aisha Al-Shamsi |
| author_sort | Abdulla Al Blooshi |
| collection | DOAJ |
| description | 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. [JBCGenetics 2022; 5(1.000): 29-34] |
| first_indexed | 2024-03-13T08:41:15Z |
| format | Article |
| id | doaj.art-9d6a79d2536a4657a2f4345f3e0d9aaf |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:41:15Z |
| publishDate | 2022-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-9d6a79d2536a4657a2f4345f3e0d9aaf2023-05-30T11:50:48ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2022-06-0151293410.24911/JBCGenetics/183-164537024984531A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature reviewAbdulla Al Blooshi0Aisha Al-Shamsi1Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates.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. [JBCGenetics 2022; 5(1.000): 29-34]http://www.ejmanager.com/fulltextpdf.php?mno=84531fat1 geneptosisnephropathysyndactylyhearing loss |
| spellingShingle | 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 Journal of Biochemical and Clinical Genetics fat1 gene ptosis nephropathy syndactyly hearing loss |
| title | A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review |
| title_full | A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review |
| title_fullStr | A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review |
| title_full_unstemmed | A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review |
| title_short | A novel frameshift homozygous mutation in FAT1 gene causes ptosis, nephropathy, and syndactyly in an Emirati family: case report and literature review |
| title_sort | novel frameshift homozygous mutation in fat1 gene causes ptosis nephropathy and syndactyly in an emirati family case report and literature review |
| topic | fat1 gene ptosis nephropathy syndactyly hearing loss |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=84531 |
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