Alireza Haghighi, Mohamed Al-Hamed, Safa Al-Hissi, Ann-Marie Hynes, Maryam Sharifian, Jamshid Roozbeh, Nasrollah Saleh-Gohari, John A Sayer
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Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.
Senior-Loken syndrome (SLS) is a rare autosomal recessive disease characterized by nephronophthisis and early-onset retinal degeneration. We used a large Iranian family with SLS to establish a molecular genetic diagnosis. Following clinical evaluation, we undertook homozygosity mapping in two affected family members and mutational analysis in known SLS genes coinciding with regions of homozygosity. In a region of homozygosity coinciding with a known SLS locus on chromosome 3q21.1, we found a homozygous non-sense mutation R332X in NPHP5/IQCB1. This is the first report of a molecular genetic diagnosis in an Iranian kindred with SLS.
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