RGD Reference Report - Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. - Rat Genome Database

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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Authors: Peral, B  San Millan, JL  Ong, AC  Gamble, V  Ward, CJ  Strong, C  Harris, PC 
Citation: Peral B, etal., Am J Hum Genet. 1996 Jan;58(1):86-96.
RGD ID: 1601399
Pubmed: PMID:8554072   (View Abstract at PubMed)
PMCID: PMC1914963   (View Article at PubMed Central)

Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and shown to encode an integral membrane protein, polycystin, involved in cell-cell and/or cell-matrix interactions. Study of the PKD1 gene has been complicated because most of the gene lies in a genomic region reiterated several times elsewhere on the same chromosome, and consequently only seven mutations have been described so far. Here we report a systematic screen covering approximately 80% of the approximately 2.75 kb of translated transcript that is encoded by single-copy DNA. We have identified and characterized six novel mutations that, together with the previously described changes, amount to a detection rate of 10%-15% in the population studied. The newly described mutations are two deletions, an insertion of a T-nucleotide causing a frame shift, two single-base-pair substitutions resulting in premature stop codons, and a G-->C transversion that may be a missense mutation. These results have important implications for genetic diagnosis of PKD1 because they indicate that the majority of mutations lie within the duplicated area, which is difficult to study. The regions of polycystin removed in each mutation so far described are assessed for their functional significance; an area disrupted by two new small in-frame changes is highlighted. PKD1 mutations are contrasted with those in the PKD1/TSC2 contiguous-gene syndrome, and the likely mutational mechanism in PKD1 is considered.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal dominant polycystic kidney disease  IAGP 1601399DNA:mutations:exons and intron:multipleRGD 
autosomal dominant polycystic kidney disease  ISOPKD1 (Homo sapiens)1601399; 1601399DNA:mutations:exons and intron:multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Pkd1  (polycystin 1, transient receptor potential channel interacting)

Genes (Mus musculus)
Pkd1  (polycystin 1, transient receptor potential channel interacting)

Genes (Homo sapiens)
PKD1  (polycystin 1, transient receptor potential channel interacting)


Additional Information