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Article

Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing.

CEN case reports - 1 Nov 2022

Esmaeilzadeh Emran, Ghaderi Zhila, Moradi Arman, Khorram Khorshid Hamid Reza

Abstract excerpt

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...

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Identifiers

PMID: 35179696
DOI: 10.1007/s13730-022-00692-4
PMCID: PMC9626710

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