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

Item Type:Article
Title:Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension
Creators Name:Toka, H.R. and Bähring, S. and Chitayat, D. and Melby, J.C. and Whitehead, R. and Jeschke, E. and Wienker, T.F. and Toka, O. and Schuster, H. and Luft, F.C.
Abstract: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.
Keywords:Human Chromosomes Pair 12, Satellite DNA, Dwarfism, Fingers, Dominant Genes, Genotype, Hypertension, Pedigree, Syndrome, Toes
Source:Annals of Internal Medicine
Publisher:American Society of Internal Medicine
Page Range:204-208
Date:1 August 1998
Official Publication:https://doi.org/10.7326/0003-4819-129-3-199808010-00008
PubMed:View item in PubMed

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