title: Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.
abstract: Skeletal and spinal radiographic findings are described in five individuals of a three-generation kindred with kyphoscoliosis. The affected individuals have a novel FBN1 gene mutation, G1796E. To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of Marfan syndrome. This previously undescribed phenotype represents yet another in the widening spectrum of fibrillinopathies caused by an FBN1 gene mutation.
authors: Marfan Research Group, Department of Clinical Genetics, The Children's Hospital at Westmead, LB 4001, Westmead, NSW 2145, Australia. lesleya@chw.edu.au
authors: Lesley C
authors: LC
authors: Adès
authors: Darshikka
authors: D
authors: Sreetharan
authors: Ella
authors: E
authors: Onikul
authors: Vivienne
authors: V
authors: Stockton
authors: Karen C
authors: KC
authors: Watson
authors: Katherine J
authors: KJ
authors: Holman
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002648:Child; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics*; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D054392:Adipokines
chemical_list: D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines