Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome
Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father ha...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-11-01
|
| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844022030626 |
| _version_ | 1811191029461680128 |
|---|---|
| author | Xia Li Weizhe Shi Xuejiao Ding Jingchun Li Yiqiang Li Jianping Wu Zhe Yuan Tianying Nong Hongwen Xu Mingwei Zhu |
| author_facet | Xia Li Weizhe Shi Xuejiao Ding Jingchun Li Yiqiang Li Jianping Wu Zhe Yuan Tianying Nong Hongwen Xu Mingwei Zhu |
| author_sort | Xia Li |
| collection | DOAJ |
| description | Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father had anomalies in the upper limbs and heart. The proband had a rare common atrium. Whole exome sequencing detected a novel small–insertion mutation (c.680_681insCTGAGAATAAT; p.Ile227fs∗) in TBX5 gene, the known disease gene for HOS. The mutation cosegregated with HOS phenotypes in the family and was predicted to cause frameshift, resulting in a truncated protein. In this study, we described a rare HOS case with common atrium. A novel small–insertion in TBX5 coding sequence was identified and speculated to be the disease–causing genetic variant in the family. Our finding expands the clinical feature spectrum and genetic aetiology spectrum of HOS. |
| first_indexed | 2024-04-11T14:59:03Z |
| format | Article |
| id | doaj.art-10c4ce0fe901411fab2fd752ebf4762b |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-04-11T14:59:03Z |
| publishDate | 2022-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-10c4ce0fe901411fab2fd752ebf4762b2022-12-22T04:17:02ZengElsevierHeliyon2405-84402022-11-01811e11774Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndromeXia Li0Weizhe Shi1Xuejiao Ding2Jingchun Li3Yiqiang Li4Jianping Wu5Zhe Yuan6Tianying Nong7Hongwen Xu8Mingwei Zhu9Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaGuangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaGuangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, ChinaDepartment of Pediatric Orthopedics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China; Corresponding author.Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China; Corresponding author.Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father had anomalies in the upper limbs and heart. The proband had a rare common atrium. Whole exome sequencing detected a novel small–insertion mutation (c.680_681insCTGAGAATAAT; p.Ile227fs∗) in TBX5 gene, the known disease gene for HOS. The mutation cosegregated with HOS phenotypes in the family and was predicted to cause frameshift, resulting in a truncated protein. In this study, we described a rare HOS case with common atrium. A novel small–insertion in TBX5 coding sequence was identified and speculated to be the disease–causing genetic variant in the family. Our finding expands the clinical feature spectrum and genetic aetiology spectrum of HOS.http://www.sciencedirect.com/science/article/pii/S2405844022030626Holt–Oram syndromeCommon atriumWhole exome sequencingTBX5Novel mutation |
| spellingShingle | Xia Li Weizhe Shi Xuejiao Ding Jingchun Li Yiqiang Li Jianping Wu Zhe Yuan Tianying Nong Hongwen Xu Mingwei Zhu Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome Heliyon Holt–Oram syndrome Common atrium Whole exome sequencing TBX5 Novel mutation |
| title | Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome |
| title_full | Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome |
| title_fullStr | Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome |
| title_full_unstemmed | Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome |
| title_short | Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome |
| title_sort | identification of a novel tbx5 mutation in a chinese family with rare symptoms of holt oram syndrome |
| topic | Holt–Oram syndrome Common atrium Whole exome sequencing TBX5 Novel mutation |
| url | http://www.sciencedirect.com/science/article/pii/S2405844022030626 |
| work_keys_str_mv | AT xiali identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT weizheshi identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT xuejiaoding identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT jingchunli identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT yiqiangli identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT jianpingwu identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT zheyuan identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT tianyingnong identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT hongwenxu identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome AT mingweizhu identificationofanoveltbx5mutationinachinesefamilywithraresymptomsofholtoramsyndrome |