Missense variants in the MAF BZIP Transcription Factor B (<i>MAFB</i>) gene cause a dominantly inherited condition with variable phenotype, ranging from isolated ocular or renal manifestations to syndromic FSGS.<h4>Methods</h4>Detailed clinical and genetic investigations were conducted in an extended family presenting with a spectrum of renal and extra-renal manifestations.<h4>Results</h4>Using Exome Sequencing (ES), a heterozygous variant, c.797T>C; p.(Leu266Pro) in the <i>MAFB</i> gene was identified in multiple affected family members. Here, MAFB is linked to focal segmental glomerulosclerosis.