title: Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.
abstract: In a heterogeneous cohort of patients (n=255) with sporadic and familial dilated cardiomyopathy (DCM), we searched for novel disease-associated mutations in the human melusin-encoding ITGB1BP2 gene and found only one missense mutation, which was a substitution of alanine for glycine at position 313 located in the carboxy-terminal spacer region of the molecule. This point mutation (c.938C>G) was identified in a 45-year-old male with familial DCM and severe impairment of left-ventricular function, but was absent in 300 healthy control subjects. However, its functional significance in the context of heart failure is unclear, as this amino acid substitution was predicted to be without disease-causing effects. In this report, we confirm the low prevalence of mutations and single nucleotide polymorphisms in the coding sequence of the human melusin gene in patients with DCM, ruling out the possibility that genetic variations in this myocardially transcribed gene may have a significant impact on the epidemiology of DCM-induced heart failure.
authors.affiliation: Department of Cardiology, University Hospital Marburg, Germany.
authors.forename: Volker
authors.initials: V
authors.lastname: Ruppert
authors.forename: Thomas
authors.initials: T
authors.lastname: Meyer
authors.forename: Anette
authors.initials: A
authors.lastname: Richter
authors.forename: Bernhard
authors.initials: B
authors.lastname: Maisch
authors.forename: Sabine
authors.initials: S
authors.lastname: Pankuweit
mesh_terms: D019943:Amino Acid Substitution; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005858:Germany / Q000453:epidemiology; D006333:Heart Failure / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide
chemical_list: D003598:Cytoskeletal Proteins; C492400:ITGB1BP2 protein, human; D009124:Muscle Proteins