BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by mutations in the NPHP 1-5 genes, and is referred to as NPHP types 1-5, respectively. The association of NPHP and retinitis pigmentosa (RP) is known as Senior-Loken syndrome (SLS). The RP is associated with 10% of cases of NPHP types 1, 3 and 4, and all cases of NPHP type 5, but never in NPHP type 2, the infantile form of NPHP. The NPHP type 2 is distinguished from other types of NPHP by its early age of onset and by cystic enlargement of the kidneys. METHODS: Mutational analysis of all five NPHP genes was performed by exon sequencing in a child with infantile NPHP and RP from a consanguineous kindred. RESULTS: A homozygous mutation was identified in exon 13 of inversin (INVS) (C2719T, R907X) in this child. CONCLUSIONS: This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations. This report now extends the association of RP with NPHP to NPHP type 2.
BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive disease, which is the most common genetic cause of end-stage renal disease in the first three decades of life. The disease is caused by mutations in the NPHP 1-5 genes, and is referred to as NPHP types 1-5, respectively. The association of NPHP and retinitis pigmentosa (RP) is known as Senior-Loken syndrome (SLS). The RP is associated with 10% of cases of NPHP types 1, 3 and 4, and all cases of NPHP type 5, but never in NPHP type 2, the infantile form of NPHP. The NPHP type 2 is distinguished from other types of NPHP by its early age of onset and by cystic enlargement of the kidneys. METHODS: Mutational analysis of all five NPHP genes was performed by exon sequencing in a child with infantile NPHP and RP from a consanguineous kindred. RESULTS: A homozygous mutation was identified in exon 13 of inversin (INVS) (C2719T, R907X) in this child. CONCLUSIONS: This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations. This report now extends the association of RP with NPHP to NPHP type 2.
Authors: Moumita Chaki; Julia Hoefele; Susan J Allen; Gokul Ramaswami; Sabine Janssen; Carsten Bergmann; John R Heckenlively; Edgar A Otto; Friedhelm Hildebrandt Journal: Kidney Int Date: 2011-08-24 Impact factor: 10.612
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Authors: Juliana Helou; Edgar A Otto; Massimo Attanasio; Susan J Allen; Melissa A Parisi; Ian Glass; Boris Utsch; Seema Hashmi; Elisa Fazzi; Heymut Omran; John F O'Toole; John A Sayer; Friedhelm Hildebrandt Journal: J Med Genet Date: 2007-07-06 Impact factor: 6.318
Authors: Natalie Acker; Harold Smith; Claire Devine; Sharon L Oltjen; Sofia Tsiropoulou; Zeljka Smit-McBride; Karen Lange; Oliver E Blacque; Joanne A Matsubara; Andrew Gordus; Andy Golden; Bruce E Vogel Journal: Proc Natl Acad Sci U S A Date: 2021-04-20 Impact factor: 11.205