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Recent advances in understanding inheritance of holoprosencephaly.
Dubourg, Christèle; Kim, Artem; Watrin, Erwan; de Tayrac, Marie; Odent, Sylvie; David, Véronique; Dupé, Valérie.
Afiliação
  • Dubourg C; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.
  • Kim A; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France.
  • Watrin E; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.
  • de Tayrac M; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.
  • Odent S; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.
  • David V; Service de Génétique Moléculaire et Génomique, CHU, Rennes, France.
  • Dupé V; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F - 35000, Rennes, France.
Am J Med Genet C Semin Med Genet ; 178(2): 258-269, 2018 06.
Article em En | MEDLINE | ID: mdl-29785796
Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods. Our main purpose is to present different inheritance patterns that exist for HPE with a particular emphasis on oligogenic inheritance and its implications in genetic counseling.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Holoprosencefalia Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet C Semin Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Holoprosencefalia Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet C Semin Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França