Novel variant of FBN2 in a patient with congenital contractual arachnodactyly
Abstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a hetero...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-02-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00264-1 |
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| _version_ | 1832594942998872064 |
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| author | Mina Nakama Yuki Miwa Sayaka Manabe Shigeru Shimamoto Hidenori Ohnishi |
| author_facet | Mina Nakama Yuki Miwa Sayaka Manabe Shigeru Shimamoto Hidenori Ohnishi |
| author_sort | Mina Nakama |
| collection | DOAJ |
| description | Abstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling. |
| format | Article |
| id | doaj-art-eaccd6e4960b48418367201097fee6d4 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-eaccd6e4960b48418367201097fee6d42025-01-19T12:16:03ZengNature Publishing GroupHuman Genome Variation2054-345X2024-02-011111310.1038/s41439-024-00264-1Novel variant of FBN2 in a patient with congenital contractual arachnodactylyMina Nakama0Yuki Miwa1Sayaka Manabe2Shigeru Shimamoto3Hidenori Ohnishi4Department of Life Science, Faculty of Science and Engineering, Kindai UniversityDepartment of Pediatrics, Graduate School of Medicine, Gifu UniversityDepartment of Life Science, Faculty of Science and Engineering, Kindai UniversityDepartment of Life Science, Faculty of Science and Engineering, Kindai UniversityDepartment of Pediatrics, Graduate School of Medicine, Gifu UniversityAbstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (FBN2) gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling.https://doi.org/10.1038/s41439-024-00264-1 |
| spellingShingle | Mina Nakama Yuki Miwa Sayaka Manabe Shigeru Shimamoto Hidenori Ohnishi Novel variant of FBN2 in a patient with congenital contractual arachnodactyly Human Genome Variation |
| title | Novel variant of FBN2 in a patient with congenital contractual arachnodactyly |
| title_full | Novel variant of FBN2 in a patient with congenital contractual arachnodactyly |
| title_fullStr | Novel variant of FBN2 in a patient with congenital contractual arachnodactyly |
| title_full_unstemmed | Novel variant of FBN2 in a patient with congenital contractual arachnodactyly |
| title_short | Novel variant of FBN2 in a patient with congenital contractual arachnodactyly |
| title_sort | novel variant of fbn2 in a patient with congenital contractual arachnodactyly |
| url | https://doi.org/10.1038/s41439-024-00264-1 |
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