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Molecular genetic studies in hereditary laminopathies of man

  • The present study was aimed at associating further genes to selected types of laminopathies applying a functional candidate gene approach. Additionally, genotype/phenotype correlations in defined laminopathies were investigated to extend the clinical spectrum and considering practical aspects of molecular genetic analysis in laminopathies. Primary and secondary laminopathies are rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina or proteins interacting with the nuclear lamina. So far at least 14 distinct disease phenotypes of primary laminopathies have been found mostly caused by pleiotropic lamin A/C ( LMNA) mutations. Secondary laminopathies can be caused by mutations in other than lamin genes including emerin (STA), lamin associated protein-2 (LAP2) and ZMPSTE24 (ZMPSTE2).
  • The present study was aimed at associating further genes to selected types of laminopathies applying a functional candidate gene approach. Additionally, genotype/phenotype correlations in defined laminopathies were investigated to extend the clinical spectrum and considering practical aspects of molecular genetic analysis in laminopathies. Primary and secondary laminopathies are rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina or proteins interacting with the nuclear lamina. So far at least 14 distinct disease phenotypes of primary laminopathies have been found mostly caused by pleiotropic lamin A/C ( LMNA) mutations. Secondary laminopathies can be caused by mutations in other than lamin genes including emerin (STA), lamin associated protein-2 (LAP2) and ZMPSTE24 (ZMPSTE2).

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Metadaten
Author: Thi Thanh Huong Le
URN:urn:nbn:de:gbv:9-000826-3
Title Additional (English):Molecular genetic studies in hereditary laminopathies of man
Title Additional (German):Molekulargenetische Untersuchungen bei hereditären Laminopathien des Menschen
Advisor:Prof. Dr. Manfred Wehnert
Document Type:Doctoral Thesis
Language:English
Date of Publication (online):2010/08/06
Granting Institution:Ernst-Moritz-Arndt-Universität, Medizinische Fakultät (bis 2010)
Date of final exam:2010/07/22
Release Date:2010/08/06
Tag:Mutational analysis, laminopathies
GND Keyword:Amgen Inc., Punktmutation
Faculties:Universit√§tsmedizin / Institut f√ľr Humangenetik
DDC class:600 Technik, Medizin, angewandte Wissenschaften / 610 Medizin und Gesundheit