Juvenile nephronophthisis (NPH), an autosomal recessive cystic kidney disease, is the primary genetic cause of chronic renal failure in children. About two thirds of patients with NPH carry a large homozygous deletion at the gene locus NPH1 on 2q13. We here identify a novel gene. NPHP1, which extends over most of this common deletion. The 4.5-kb transcript encodes a protein with an SH3 domain, which is highly conserved throughout evolution. The 11-kb interval between the 3' end of NPHP1 and an inverted repeat containing the distal deletion breakpoint was found to contain the first exon of a second gene, MALL. In patients with a hemizygous deletion of the NPH1 region, additional point mutations were found in NPHP1 but not in MALL.
Pubmed ID: 9326933 RIS Download
Mesh terms: Adaptor Proteins, Signal Transducing | Amino Acid Sequence | Base Sequence | Child | DNA Mutational Analysis | DNA Primers | DNA, Complementary | Exons | Gene Expression | Humans | Kidney Diseases, Cystic | Membrane Proteins | Molecular Sequence Data | Mutation | Polymerase Chain Reaction | Polymorphism, Single-Stranded Conformational | Proteins | Sequence Deletion | Sequence Homology, Amino Acid | Sequence Tagged Sites | src Homology Domains
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