A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant
ABSTRACT Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD. While seven loci potentially associated with SCD have bee...
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| Format: | Article |
| Language: | English |
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Wiley
2025-06-01
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| Series: | Orthopaedic Surgery |
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| Online Access: | https://doi.org/10.1111/os.70026 |
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| author | Haoyu Cai Xu'an Huang Haojie Chen Junduo Zhao Heng Sun Yizhen Huang Jiayue Guo Jianxiong Shen |
| author_facet | Haoyu Cai Xu'an Huang Haojie Chen Junduo Zhao Heng Sun Yizhen Huang Jiayue Guo Jianxiong Shen |
| author_sort | Haoyu Cai |
| collection | DOAJ |
| description | ABSTRACT Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD. While seven loci potentially associated with SCD have been identified, rare cases remain unexplained. Case Presentations A 37‐year‐old female diagnosed with SCD at birth was reported in this study. She exhibited scoliosis and thoracic asymmetry, along with a left‐sided bilateral breast deformity. Imaging analysis revealed congenital scoliosis with a lack of segmentation, deformity of multiple ribs, and a lower spinal cord. Using whole‐exome sequencing, we identified the genetic variant in the afflicted individual. We detected a heterozygous exon 16 FLNA variant in the afflicted individual and confirmed the absence of pathogenic variants of other known SCD‐associated genes. Conclusions The variant NM_001456.4: c.2351T>C detected in this study enhances our knowledge of the pleiotropy linked with heterozygous FLNA variants. By expanding the mutation spectrum of FLNA, these findings will lay a foundation for further studies on the correlation between genotypes and phenotypes. |
| format | Article |
| id | doaj-art-7850da67e4204a6786f3176f53fb4cc9 |
| institution | DOAJ |
| issn | 1757-7853 1757-7861 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Wiley |
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| series | Orthopaedic Surgery |
| spelling | doaj-art-7850da67e4204a6786f3176f53fb4cc92025-08-20T03:09:57ZengWileyOrthopaedic Surgery1757-78531757-78612025-06-011761890189610.1111/os.70026A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA VariantHaoyu Cai0Xu'an Huang1Haojie Chen2Junduo Zhao3Heng Sun4Yizhen Huang5Jiayue Guo6Jianxiong Shen7Department of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaDepartment of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaDepartment of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaDepartment of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaDepartment of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaDepartment of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaSchool of Health Policy and Management Chinese Academy of Medical Science & Peking Union Medical College Beijing People's Republic of ChinaDepartment of Orthopedics Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Graduate School of Peking Union Medical College Beijing People's Republic of ChinaABSTRACT Background Spondylocostal dysplasia (SCD) is characterized by vertebral defects and rib abnormalities. Following radiological diagnosis, further genetic testing is conducted to confirm the mutant loci and identify the subtype of SCD. While seven loci potentially associated with SCD have been identified, rare cases remain unexplained. Case Presentations A 37‐year‐old female diagnosed with SCD at birth was reported in this study. She exhibited scoliosis and thoracic asymmetry, along with a left‐sided bilateral breast deformity. Imaging analysis revealed congenital scoliosis with a lack of segmentation, deformity of multiple ribs, and a lower spinal cord. Using whole‐exome sequencing, we identified the genetic variant in the afflicted individual. We detected a heterozygous exon 16 FLNA variant in the afflicted individual and confirmed the absence of pathogenic variants of other known SCD‐associated genes. Conclusions The variant NM_001456.4: c.2351T>C detected in this study enhances our knowledge of the pleiotropy linked with heterozygous FLNA variants. By expanding the mutation spectrum of FLNA, these findings will lay a foundation for further studies on the correlation between genotypes and phenotypes.https://doi.org/10.1111/os.70026FLNAheterozygous mutationmissense mutationspondylocostal dysplasia |
| spellingShingle | Haoyu Cai Xu'an Huang Haojie Chen Junduo Zhao Heng Sun Yizhen Huang Jiayue Guo Jianxiong Shen A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant Orthopaedic Surgery FLNA heterozygous mutation missense mutation spondylocostal dysplasia |
| title | A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant |
| title_full | A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant |
| title_fullStr | A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant |
| title_full_unstemmed | A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant |
| title_short | A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant |
| title_sort | novel subtype of spondylocostal dysplasia associated with a heterozygous missense flna variant |
| topic | FLNA heterozygous mutation missense mutation spondylocostal dysplasia |
| url | https://doi.org/10.1111/os.70026 |
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