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Title
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A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.
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Authors
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F.Hildebrandt,
E.Otto,
C.Rensing,
H.G.Nothwang,
M.Vollmer,
J.Adolphs,
H.Hanusch,
M.Brandis.
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Ref.
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Nat Genet, 1997,
17,
149-153.
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PubMed id
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Abstract
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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.
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