Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
LC Adès, D Sreetharan, E Onikul… - American journal of …, 2002 - Wiley Online Library
LC Adès, D Sreetharan, E Onikul, V Stockton, KC Watson, KJ Holman
American journal of medical genetics, 2002•Wiley Online LibrarySkeletal 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 …
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 …
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. © 2002 Wiley‐Liss, Inc.
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