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.


METHODS
Case series.


METHODS
Tertiary care medical centers.


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


METHODS
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.
Toka
H R
HR
The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Bähring
S
S
Chitayat
D
D
Melby
J C
JC
Whitehead
R
R
Jeschke
E
E
Wienker
T F
TF
Toka
O
O
Schuster
H
H
Luft
F C
FC
D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004276:DNA, Satellite; D004392:Dwarfism / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
D004276:DNA, Satellite