FAMILIES WITH AUTOSOMAL-DOMINANT BRACHYDACTYLY TYPE-E, SHORT STATURE,AND SEVERE HYPERTENSION

Background: Rare, monogenic forms of hypertension may give insight int o novel mechanisms relevant to essential hypertension. Autosomal domin ant hypertension with brachydactyly has been documented in a single Tu rkish kindred; the gene was mapped to chromosome 12p. Objective: To de scribe the molecular genetics of additional families with autosomal do minant hypertension and brachydactyly. Design: Case series. Setting: T ertiary care medical centers. Patients: An Ii-member Canadian family a nd a 7-member U.S. family, neither of Turkish background, with autosom al dominant hypertension and type E brachydactyly. Measurements: Clini cal evaluation, genotyping, and haplotype analyses. Results: The mode of inheritance, the type E brachydactyly, and the propensity for strok e were consistent with autosomal dominant hypertension with brachydact yly. The same markers on chromosome 12p cosegregated with the phenotyp e in the families. A haplotype analysis strongly supported the conclus ion that these families have a molecular defect in the same gene. Conc lusions: The syndrome of autosomal dominant hypertension and brachydac tyly is not confined to patients of Turkish origin. All persons with b rachydactyly should have their blood pressure measured, and the syndro me should be considered if hypertension is found.