SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae
| Autor: | Peter Beighton, Malwina Czarny-Ratajczak, Lukasz Kuszel, Kazimierz Kozlowski, Maciej Lukaszewski, Tadeusz Biegański, Krzysztof Bik, Ewa Wasilewska |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Male Craniofacial abnormality Mutation Missense Notochord TRPV Cation Channels Biology Osteochondrodysplasias Article 030218 nuclear medicine & medical imaging Craniofacial Abnormalities 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Abnormalities Multiple Intervertebral Disc Endochondral ossification Genetics (clinical) Arthrogryposis Hyaline cartilage Ossification Ossification Heterotopic Infant Intervertebral disc General Medicine Anatomy medicine.disease Magnetic Resonance Imaging Spine 030104 developmental biology medicine.anatomical_structure Hyaline Cartilage Dysplasia medicine.symptom |
| Zdroj: | European journal of medical genetics. 60(10) |
| ISSN: | 1878-0849 |
| Popis: | Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal involvement. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4:c.1781G>A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet. The vertebral bodies had increased thickness of hyaline cartilage which enveloped ossification centers. The vertebrae and discs also had abnormalities in size, shape and structure. These anomalies were most likely the consequence of notochordal remnants presence within the intervertebral discs and in the vertebral bodies. The advantages of MR imaging in bone dysplasias caused by TRPV4 mutations are emphasized in this article. |
| Databáze: | OpenAIRE |
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