Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.

Abstract

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.

• Authors: Alireza Haghighi, Mohamed Al-Hamed, Safa Al-Hissi, Ann-Marie Hynes, Maryam Sharifian, Jamshid Roozbeh, Nasrollah Saleh-Gohari, John A Sayer
• Journal: NDT plus (NDT Plus) Vol. 4 Issue 6 Pg. 421-3 (Dec 2011) ISSN: 1753-0784 [Print] England
• PMID: 25984213 (Publication Type: Case Reports)