ArticleMolecular syndromology2025
Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of
Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Kniest dysplasia is a severe form of type II collagenopathy caused by mutations in collagen II alpha 1 chain ( Case Presentation: We describe a female patient aged 39 years with difficulty in walking, back pain, and limited movement of the lower extremities. She had experienced neck pain during adolescence; however, it gradually decreased with age. She also showed markedly short stature (-4.37 SD), cleft palate, cataract, retinal detachment, and serous otitis media. Radiographic analyses revealed epiphyseal enlargement of the longitudinal bones, kyphoscoliosis, and flat vertebrae in the thoracolumbar spine. The cervical spinal bodies were fused but not at the age of 19 years. Genetic analysis revealed a novel heterozygous mutation, c.1266+2T>A, in intron 20 of Discussion: The diagnosis of Kniest dysplasia is sometimes difficult based on clinical findings in adulthood owing to progressive skeletal changes. The current novel splice mutation in
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