Autosomal Dominant Disorder - Explore the Science & Experts | ideXlab


Scan Science and Technology

Contact Leading Edge Experts & Companies

Autosomal Dominant Disorder

The Experts below are selected from a list of 29292 Experts worldwide ranked by ideXlab platform

Autosomal Dominant Disorder – Free Register to Access Experts & Abstracts

Raoul C M Hennekam – One of the best experts on this subject based on the ideXlab platform.

  • singleton merten syndrome an Autosomal Dominant Disorder with variable expression
    American Journal of Medical Genetics Part A, 2013
    Co-Authors: Annette Feigenbaum, Christine Muller, Christopher Yale, Johannes Kleinheinz, Peter A Jezewski, Hans Gerd Kehl, Mary Macdougall, Frank Rutsch, Raoul C M Hennekam

    Abstract:

    : In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome. The occurrence of the Disorder in six members of two families and vertical male-to-male transmission indicate an Autosomal Dominant pattern of inheritance. Variability in phenotype, also within a single family, is significant. Core manifestations are marked aortic calcification, dental anomalies (delayed eruption and immature root formation of primarily the anterior permanent teeth, and early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss), osteopenia and acro-osteolysis, and to a lesser extend also glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion) and abnormal joint and muscle ligaments. The cause and pathogenesis of this syndrome remain unknown. © 2013 Wiley Periodicals, Inc.

    Free Register to Access Article

  • Singleton–Merten syndrome: An Autosomal Dominant Disorder with variable expression
    American Journal of Medical Genetics Part A, 2013
    Co-Authors: Annette Feigenbaum, Christine Muller, Christopher Yale, Johannes Kleinheinz, Peter A Jezewski, Hans Gerd Kehl, Mary Macdougall, Frank Rutsch, Raoul C M Hennekam

    Abstract:

    In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome. The occurrence of the Disorder in six members of two families and vertical male-to-male transmission indicate an Autosomal Dominant pattern of inheritance. Variability in phenotype, also within a single family, is significant. Core manifestations are marked aortic calcification, dental anomalies (delayed eruption and immature root formation of primarily the anterior permanent teeth, and early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss), osteopenia and acro-osteolysis, and to a lesser extend also glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion) and abnormal joint and muscle ligaments. The cause and pathogenesis of this syndrome remain unknown. © 2013 Wiley Periodicals, Inc.

    Free Register to Access Article

Yves Lacassie – One of the best experts on this subject based on the ideXlab platform.

  • hppd a newly recognized Autosomal Dominant Disorder involving hypertelorism preauricular sinus punctal pits and deafness mapping to chromosome 14q31
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Srirangan Sampath, Yves Lacassie, Bronya J B Keats

    Abstract:

    We report on a novel Autosomal Dominant Disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism, preauricular sinus, deafness, and punctal pits with lacrimal-duct obstruction. We ruled out the involvement of EYA1, SIX1, and SIX5 as candidate genes by direct sequencing of their exons and by SNP-based linkage analysis. Subsequent SNP-based whole-genome genotyping and parametric multipoint linkage analysis gave lod scores >1 at 14q31 (LOD = 3.14), 11q25 (LOD = 1.87), and 8p23 (LOD = 1.18). By genotyping additional microsatellite markers at two of these three loci and using an expanded phenotype definition, the LOD at 14q31 increased to 3.34. Direct sequencing of the gene exons within the 14q31 critical interval and a custom aCGH experiment did not show any pathogenic mutation or copy-number changes. Further sequencing of 21 kb of promoter regions showed a novel polymorphism 1,249 bp upstream from the SELIL start codon that segregated with the disease haplotype. Cloning the novel polymorphism into luciferase reporter constructs resulted in a 20% reduction in the expression levels. The identification of this family with a distinctive clinical phenotype and linkage to a novel locus at 14q31 supports the existence of a new syndrome of the branchial cleft. © 2011 Wiley-Liss, Inc.

    Free Register to Access Article

  • HPPD: A newly recognized Autosomal Dominant Disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.
    American journal of medical genetics. Part A, 2011
    Co-Authors: Srirangan Sampath, Bronya J B Keats, Yves Lacassie

    Abstract:

    We report on a novel Autosomal Dominant Disorder with variable phenotypic expression in a three-generation family; the major features include hypertelorism, preauricular sinus, deafness, and punctal pits with lacrimal-duct obstruction. We ruled out the involvement of EYA1, SIX1, and SIX5 as candidate genes by direct sequencing of their exons and by SNP-based linkage analysis. Subsequent SNP-based whole-genome genotyping and parametric multipoint linkage analysis gave lod scores >1 at 14q31 (LOD = 3.14), 11q25 (LOD = 1.87), and 8p23 (LOD = 1.18). By genotyping additional microsatellite markers at two of these three loci and using an expanded phenotype definition, the LOD at 14q31 increased to 3.34. Direct sequencing of the gene exons within the 14q31 critical interval and a custom aCGH experiment did not show any pathogenic mutation or copy-number changes. Further sequencing of 21 kb of promoter regions showed a novel polymorphism 1,249 bp upstream from the SELIL start codon that segregated with the disease haplotype. Cloning the novel polymorphism into luciferase reporter constructs resulted in a 20% reduction in the expression levels. The identification of this family with a distinctive clinical phenotype and linkage to a novel locus at 14q31 supports the existence of a new syndrome of the branchial cleft.

    Free Register to Access Article

Annette Feigenbaum – One of the best experts on this subject based on the ideXlab platform.

  • singleton merten syndrome an Autosomal Dominant Disorder with variable expression
    American Journal of Medical Genetics Part A, 2013
    Co-Authors: Annette Feigenbaum, Christine Muller, Christopher Yale, Johannes Kleinheinz, Peter A Jezewski, Hans Gerd Kehl, Mary Macdougall, Frank Rutsch, Raoul C M Hennekam

    Abstract:

    : In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome. The occurrence of the Disorder in six members of two families and vertical male-to-male transmission indicate an Autosomal Dominant pattern of inheritance. Variability in phenotype, also within a single family, is significant. Core manifestations are marked aortic calcification, dental anomalies (delayed eruption and immature root formation of primarily the anterior permanent teeth, and early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss), osteopenia and acro-osteolysis, and to a lesser extend also glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion) and abnormal joint and muscle ligaments. The cause and pathogenesis of this syndrome remain unknown. © 2013 Wiley Periodicals, Inc.

    Free Register to Access Article

  • Singleton–Merten syndrome: An Autosomal Dominant Disorder with variable expression
    American Journal of Medical Genetics Part A, 2013
    Co-Authors: Annette Feigenbaum, Christine Muller, Christopher Yale, Johannes Kleinheinz, Peter A Jezewski, Hans Gerd Kehl, Mary Macdougall, Frank Rutsch, Raoul C M Hennekam

    Abstract:

    In 1973, Singleton and Merten described two females with abnormal dentition, unique radiographic changes especially of the hands, and severe calcification and intimal weakening of the aortic arch and valve. Since then three additional cases with similar features have been reported and the diagnosis was suggested in another three individuals. We present an update of one case and the detailed clinical phenotype of six other cases with Singleton-Merten syndrome. The occurrence of the Disorder in six members of two families and vertical male-to-male transmission indicate an Autosomal Dominant pattern of inheritance. Variability in phenotype, also within a single family, is significant. Core manifestations are marked aortic calcification, dental anomalies (delayed eruption and immature root formation of primarily the anterior permanent teeth, and early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss), osteopenia and acro-osteolysis, and to a lesser extend also glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical characteristics described here include particular facial characteristics (high anterior hairline, broad forehead, smooth philtrum, thin upper vermillion) and abnormal joint and muscle ligaments. The cause and pathogenesis of this syndrome remain unknown. © 2013 Wiley Periodicals, Inc.

    Free Register to Access Article