title: [From phenotype to genotype: a glimpse behind the scenes of an unending story].
abstract: Mendelian conditions direct attention at basic mechanisms. In the 1990's DNA sequencing allowed elucidating such conditions. We embarked on an unexpected adventure to study a monogenic autosomal-dominant form of hypertension causing also a specific form of short fingers. The gene locus caused a 50 mmHg increase in blood pressure at age of 50. Our clinically based group stumbled to the finish line after 20 years of study. We remained together and proudly persevered. Our findings could be relevant for essential hypertension.
authors.affiliation: Institut Experimental and Clinical Research Center (ECRC), eine gemeinsame Einrichtung des Max-Delbrück-Centrums für Molekulare Medizin (MDC) und der Charité Medizinischen Fakultät, Berlin.
authors.forename: Herbert
authors.initials: H
authors.lastname: Schuster
authors.affiliation: Institut Experimental and Clinical Research Center (ECRC), eine gemeinsame Einrichtung des Max-Delbrück-Centrums für Molekulare Medizin (MDC) und der Charité Medizinischen Fakultät, Berlin.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Bähring
authors.affiliation: Max-Planck-Institut für molekulare Genetik (MPIMG), Abteilung Molekulare Humangenetik.
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Wienker
authors.affiliation: Institut Experimental and Clinical Research Center (ECRC), eine gemeinsame Einrichtung des Max-Delbrück-Centrums für Molekulare Medizin (MDC) und der Charité Medizinischen Fakultät, Berlin.
authors.forename: Friedrich C
authors.initials: FC
authors.lastname: Luft
mesh_terms: D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D010641:Phenotype; D017422:Sequence Analysis, DNA