title: Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1.
abstract: Emery Dreifuss muscular dystrophy (EDMD) is a hereditary muscular disorder, characterized by contractures, progressive muscular wasting and cardiac involvement. The majority of EDMD patients harbor mutations in the lamin A/C (LMNA) and emerin (STA) genes. Emerging data implicate mutations in FHL1 (four and a half LIM protein 1) gene, located in chromosome Xq26, in EDMD pathogenesis. FHL1 is mainly expressed in striated and cardiac muscle, and plays an important role in sarcomeric protein synthesis, maintenance of cellular integrity, intracellular signaling and genetic transcription pathways. We report the identification of a novel nonsense mutation in FHL1 gene, associated with left ventricular hypertrophy and a family history of stroke and sudden cardiac death. The management implications of this diagnosis are also discussed.
authors.affiliation: The Heart Hospital, Institute of Cardiovascular Science, University College London, 16-18 Westmoreland Street, London W1G 8PH, United Kingdom.
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Gossios
authors.forename: Luis R
authors.initials: LR
authors.lastname: Lopes
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics; D018389:Codon, Nonsense; D016757:Death, Sudden, Cardiac / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics* / Q000473:pathology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060588:LIM Domain Proteins / Q000235:genetics*; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics / Q000473:pathology; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D015398:Signal Transduction
chemical_list: D018389:Codon, Nonsense; C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; C494847:LMNA protein, human; D034904:Lamin Type A; D008565:Membrane Proteins; D009124:Muscle Proteins; D009687:Nuclear Proteins; C092710:emerin