ArticleCEN case reports2022
Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing.
Article in CEN case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors at 1 institution in 2 countries.
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Abstract
Pathogenic variants in FAT1 gene have recently been described in association with coloboma, nephropathy, and facial dismorphism. Here we describe a 5-year-old Iranian boy with iris coloboma and nephropathy, born to an Iranian family. Extracted genomic DNA from blood sample was used to perform whole exome sequencing in the patient. The mutational screening revealed a homozygote Fat1 gene mutation c.5320A > G (p.17747Val), not previously reported in homozygote state in Iran. Our findings establish FAT1 as a gene with pleiotropic effects in human, emphasizing it as one of the causative genes in syndromic nephropathies.
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