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G Coles

Publications and source records attributed to G Coles.

15 recordsLinked to original sources
PubMed1998

Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

A search has been conducted for disease-causing mutations in the PKD1 gene in 147 unrelated ADPKD index cases. Using the polymerase chain reaction with primer pairs located in the 3' single copy region of the gene and single-strand conformation polymorphism analysis, we detected novel aberrant bands in five individuals that were absent in 100 control samples. Sequencing revealed three nonsense mutations (Q4010X, E4024X, Q4041X), a frameshift mutation (12262 del 2 bp), and a missense mutation (G4031D). In addition, three polymorphisms were detected [12346 + 19delG, heterozygosity (0.13), I4044V (0.23), 12212-34C > A (0.07)]. The mutational mechanism for the recurrent mutation (Q4041X) is likely to be slipped mispairing of an adjacent direct imperfect repeat sequence.

Amino Acid Substitution↗
PubMed1997

Abdominal wall hernia in autosomal dominant polycystic kidney disease.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of renal impairment with a number of well recognized extrarenal associations. A high incidence of abdominal wall hernia was noted in patients with ADPKD. METHODS: A retrospective review of the notes of all patients with ADPKD on the South Wales renal replacement therapy database was performed. These patients were compared with age- and sex-matched patients with renal failure but without ADPKD and with general surgical patients. RESULTS: The prevalence of hernia in patients with ADPKD was 38 of 85 (45 per cent) compared with seven of 85 (8 per cent) for other forms of renal failure and three of 85 (4 per cent) for general surgical controls (P < 0.001). There were significantly greater numbers of inguinal (P < 0.001), incisional (P = 0.019) and paraumbilical (P = 0.007) hernias in patients with ADPKD compared with the other two groups. CONCLUSION: These results show a significantly greater incidence of hernia, which could be an additional manifestation of the underlying defect in extracellular matrix production identified in patients with ADPKD.

Adult↗