title: 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.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
authors.forename: Alireza
authors.initials: A
authors.lastname: Haghighi
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia ; Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, UK.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Al-Hamed
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: Safa
authors.initials: S
authors.lastname: Al-Hissi
authors.affiliation: Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, UK.
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Hynes
authors.affiliation: Urology Nephrology Research Center, Department of Internal Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Sharifian
authors.affiliation: Urology Nephrology Research Center, Department of Internal Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Jamshid
authors.initials: J
authors.lastname: Roozbeh
authors.affiliation: Department of Genetics, Kerman University of Medical Sciences, Kerman, Iran.
authors.forename: Nasrollah
authors.initials: N
authors.lastname: Saleh-Gohari
authors.affiliation: Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: Sayer
keywords: Iran; Senior-Lokensyndrome; homozygosity mapping; mutation; nephronophthisis