XXXX associated with hepatocyte nuclear factor 1alpha inactivation.

@entity1 @entity8055 @entity6 @entity548 @entity96 @entity409 @entity70609 @entity5448
BACKGROUND _ AIMS: Germline mutations in hepatocyte nuclear factor 1alpha ( @entity5448 / @entity5448 ) are associated with maturity-onset @entity6 of the young type 3 ( @entity5448 ), and somatic biallelic inactivations of the gene are found in @entity8055 and @entity409 . This study investigated cosegregation of @entity5448 germline mutations with @entity6 and @entity409 in 2 families. METHODS: Two unrelated @entity1 with @entity409 and harboring @entity5448 germline and somatic mutations were studied. Subsequently, we screened 9 relatives in the 2 independent families for @entity6 , @entity8055 , and @entity5448 germline mutations. RESULTS: In family A, a father and his son presented with an intraperitoneal @entity548 of a @entity409 without @entity6 . A heterozygous @entity70609 germline mutation was identified in @entity5448 in the father and his son and also in his second 27-year-old son without @entity8055 . In family B, a diagnosis of @entity409 was made fortuitously in a 14-year-old @entity1 . A heterozygous G55fsX57 germline mutation in @entity5448 was identified in this @entity1 , her @entity6 father, and her 2 sisters. Systematic exploration showed @entity409 in the 2 sisters. Somatic inactivation of the second @entity5448 allele was found in @entity96 in both families. CONCLUSIONS: This study describes familial @entity409 and shows the association with germline @entity5448 mutations in adults and @entity1 . It also highlights the importance of screening for @entity8055 , @entity6 , and @entity5448 germline mutations in relatives of @entity1 with @entity409 . Finally, prevalence of @entity409 remains to be evaluated in @entity5448 subjects.
