Mutations in the hepatocyte nuclear factor-la (HNFl a ) gene have recently been shown to cause maturityonset diabetes of the young (MODY). We have examined 15 U.K. MODY families for mutations in the coding region of the HNF-la gene. Eight different mutations, three frameshift (P291fsinsC, P379fsdelCT, and A443fsdelCA) and five missense mutations (P129T, R131W, R159W, P519L, and T620I), were identified in eleven families (73%). The previously reported mutation P291fsinsC was found in four pedigrees. A screen of a further 32 probands with early onset (<40 years of age) NIDDM showed the mutation in two additional families. This common mutation was present on at least three different haplotypes, suggesting that its high frequency is due to recurrent mutation rather than a founder effect. We have demonstrated that mutations in the HNF-la gene are a common cause of MODY in U.K. families and result in early onset NIDDM with a progressive clinical course. Mutation-based genetic counseling can now be considered for the majority of patients with MODY. Diabetes 46:720-725,1997
smoke but, as there are no data directly relating cotinine levels to risk of death, it is not possible to predict the likely effect of a reduction of this magnitude on the risk of sudden infant death. Our results also suggest that harm reduction measures short of a total ban on smoking in the home are likely to have little effect on the exposure of infants to tobacco smoke, but this requires verification with a larger sample.We thank the parents who participated; the health visitors, their managers, and staff in the child health departments of the NHS trusts who helped us to recruit our sample; and the nurses who collected the data.
Integrated foot risk scores are more sensitive than individual clinical criteria in predicting future foot ulceration and are likely to be better screening tools, where excluding false negative results is of paramount importance.
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