Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.

BACKGROUND

Rare, monogenic forms of hypertension may give insight into novel mechanisms relevant to essential hypertension. Autosomal dominant hypertension with brachydactyly has been documented in a single Turkish kindred; the gene was mapped to chromosome 12p.

OBJECTIVE

To describe the molecular genetics of additional families with autosomal dominant hypertension and brachydactyly.

DESIGN

Case series.

SETTING

Tertiary care medical centers.

PATIENTS

An 11-member Canadian family and a 7-member U.S. family, neither of Turkish background, with autosomal dominant hypertension and type E brachydactyly.

MEASUREMENTS

Clinical evaluation, genotyping, and haplotype analyses.

RESULTS

The mode of inheritance, the type E brachydactyly, and the propensity for stroke were consistent with autosomal dominant hypertension with brachydactyly. The same markers on chromosome 12p cosegregated with the phenotype in the families. A haplotype analysis strongly supported the conclusion that these families have a molecular defect in the same gene.

CONCLUSIONS

The syndrome of autosomal dominant hypertension and brachydactyly is not confined to patients of Turkish origin. All persons with brachydactyly should have their blood pressure measured, and the syndrome should be considered if hypertension is found.