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Families with Autosomal Dominant Brachydactyly Type E, Short Stature, and Severe Hypertension

Hakan R. Toka, MD; Sylvia Bahring, PhD; David Chitayat, MD; James C. Melby, MD; Richard Whitehead, MD; Eva Jeschke, BS; Thomas F. Wienker, MD; Okan Toka, MS; Herbert Schuster, MD; and Friedrich C. Luft, MD
[+] Article, Author, and Disclosure Information

From The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Boston University Medical Center, Boston, Massachusetts; and Humboldt University of Berlin, Berlin, Germany. Grant Support: By a grant-in-aid to Friedrich C. Luft from the Bundesministerium fur Bildung und Forschung; a grant-in-aid from the U.S. Air Force; and Perkin-Elmer, Applied Biosystems Division (Foster City, California). Astra Hassle Corp. (Wedel, Germany) supplied the antihypertensive medications. This study partly satisfies the research requirements for the Dr. med. degree of Hakan R. Toka. Requests for Reprints: Friedrich C. Luft, MD, Franz Volhard Clinic, Wiltberg Strasse 50, 13122 Berlin, Germany. Current Author Addresses: Drs. Toka, Bahring, Wienker, Schuster, and Luft, Ms. Jeschke, and Mr. Toka: Franz Volhard Clinic, Wiltberg Strasse 50, 13122 Berlin, Germany.

Copyright ©2004 by the American College of Physicians

Ann Intern Med. 1998;129(3):204-208. doi:10.7326/0003-4819-129-3-199808010-00008
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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.


Grahic Jump Location
Figure 1.
Radiographs of the left hands of a 4.leftrightarrowsarrowsFigure 2Figure 3

5-year-old child ( ) and a 22-year-old woman ( ) with type E brachydactyly (all phalanges and metacarpals are shortened). In the child's hand, cone-shaped epiphyses are apparent at several locations ( ). Residual of such epiphyses ( ) are apparent in the adult's hand. Black arrow denotes short metacarpals. Both patients are indicated by arrows in and .

Grahic Jump Location
Grahic Jump Location
Figure 2.
A. Family tree of 15 U.S. persons.

Eight had hypertension, brachydactyly, and short stature, and 7 did not. Seven living persons were examined. The blood pressure status of the deceased persons was discemed by family history. B. Family tree of 11 Canadian persons over three generations. Six persons had hypertension, brachydactyly, and short stature (black symbols), and 5 did not (white symbols). In both families, all affected persons were, on average, 10 cm shorter than unaffected family members. The blood pressures (mm Hg) of persons not yet treated are given. The haplotype analysis of the respective microsatellite markers is given under each symbol.

Grahic Jump LocationGrahic Jump Location




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