Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients
Abstract Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygom...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1573 |
| _version_ | 1827345669956829184 |
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| author | Zhaoyu Pan Hongen Xu Bei Chen Yongan Tian Linlin Zhang Sen Zhang Danhua Liu Huanfei Liu Ruijun Li Xinxin Hu Jingyuan Guan Wenxue Tang Wei Lu |
| author_facet | Zhaoyu Pan Hongen Xu Bei Chen Yongan Tian Linlin Zhang Sen Zhang Danhua Liu Huanfei Liu Ruijun Li Xinxin Hu Jingyuan Guan Wenxue Tang Wei Lu |
| author_sort | Zhaoyu Pan |
| collection | DOAJ |
| description | Abstract Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygomatic complex and mandible, downslanting palpebral fissures, coloboma of the lower eyelids, and conductive hearing loss. Materials and Methods Audiological, radiological, and physical examinations were performed. Targeted next‐generation sequencing (NGS) was performed to examine the genetics of this disease in five probands, and Sanger sequencing was used to confirm the identified variants. A literature review discusses the pathogenesis, treatment, and prevention of TCS1. Results We identified a novel insertion of c.939_940insA (p.Gly314Argfs*35; NM_001135243.1), a novel deletion of c.1766delC (p.Pro589Leufs*7), two previously reported insertions of c.1999_2000insC (p.Arg667Profs*31) and c.4218_4219insG (p.Ser1407Valfs*23), and one previously reported deletion of c.4369_4373delAAGAA (p.Lys1457Glufs*12) in the TCOF1 gene. All five cases exhibited a degree of interfamilial and intrafamilial phenotypic variability. A review of the literature revealed no clear evidence of a genotype–phenotype correlation in TCS1. Conclusion Our results expand the variant spectrum of TCOF1 and highlight that NGS is essential for the diagnosis of TCS and that genetic counseling is beneficial for guiding prevention. |
| first_indexed | 2024-03-07T23:15:54Z |
| format | Article |
| id | doaj.art-5429da2544b145f1942f75751e5bbcd2 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:15:54Z |
| publishDate | 2021-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-5429da2544b145f1942f75751e5bbcd22024-02-21T11:37:44ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-02-0192n/an/a10.1002/mgg3.1573Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patientsZhaoyu Pan0Hongen Xu1Bei Chen2Yongan Tian3Linlin Zhang4Sen Zhang5Danhua Liu6Huanfei Liu7Ruijun Li8Xinxin Hu9Jingyuan Guan10Wenxue Tang11Wei Lu12Department of Otorhinolaryngology, Head and Neck Surgery The First Affiliated Hospital of Zhengzhou University Zhengzhou ChinaPrecision Medicine Center Academy of Medical ScienceZhengzhou University Zhengzhou ChinaDepartment of Otorhinolaryngology, Head and Neck Surgery The First Affiliated Hospital of Zhengzhou University Zhengzhou ChinaBGI CollegeZhengzhou University Zhengzhou ChinaDepartment of Clinical Laboratory The Third Affiliated Hospital of Zhengzhou University Zhengzhou ChinaSchool of Basic Medical Sciences Zhengzhou University Zhengzhou ChinaCenter for Applied Precision Medicine The Second Affiliated Hospital of Zhengzhou University Zhengzhou ChinaPrecision Medicine Center Academy of Medical ScienceZhengzhou University Zhengzhou ChinaPrecision Medicine Center Academy of Medical ScienceZhengzhou University Zhengzhou ChinaPrecision Medicine Center Academy of Medical ScienceZhengzhou University Zhengzhou ChinaPrecision Medicine Center Academy of Medical ScienceZhengzhou University Zhengzhou ChinaCenter for Applied Precision Medicine The Second Affiliated Hospital of Zhengzhou University Zhengzhou ChinaDepartment of Otorhinolaryngology, Head and Neck Surgery The First Affiliated Hospital of Zhengzhou University Zhengzhou ChinaAbstract Background Treacher Collins syndrome‐1 (TCS1; OMIM# 154500) is a rare autosomal dominant disease that is defined by congenital craniofacial dysplasia. Here, we report four sporadic and one familial case of TCS1 in Chinese patients with clinical features presenting as hypoplasia of the zygomatic complex and mandible, downslanting palpebral fissures, coloboma of the lower eyelids, and conductive hearing loss. Materials and Methods Audiological, radiological, and physical examinations were performed. Targeted next‐generation sequencing (NGS) was performed to examine the genetics of this disease in five probands, and Sanger sequencing was used to confirm the identified variants. A literature review discusses the pathogenesis, treatment, and prevention of TCS1. Results We identified a novel insertion of c.939_940insA (p.Gly314Argfs*35; NM_001135243.1), a novel deletion of c.1766delC (p.Pro589Leufs*7), two previously reported insertions of c.1999_2000insC (p.Arg667Profs*31) and c.4218_4219insG (p.Ser1407Valfs*23), and one previously reported deletion of c.4369_4373delAAGAA (p.Lys1457Glufs*12) in the TCOF1 gene. All five cases exhibited a degree of interfamilial and intrafamilial phenotypic variability. A review of the literature revealed no clear evidence of a genotype–phenotype correlation in TCS1. Conclusion Our results expand the variant spectrum of TCOF1 and highlight that NGS is essential for the diagnosis of TCS and that genetic counseling is beneficial for guiding prevention.https://doi.org/10.1002/mgg3.1573conductive hearing losscraniofacial dysplasiaTCOF1Treacher Collins syndrome |
| spellingShingle | Zhaoyu Pan Hongen Xu Bei Chen Yongan Tian Linlin Zhang Sen Zhang Danhua Liu Huanfei Liu Ruijun Li Xinxin Hu Jingyuan Guan Wenxue Tang Wei Lu Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients Molecular Genetics & Genomic Medicine conductive hearing loss craniofacial dysplasia TCOF1 Treacher Collins syndrome |
| title | Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients |
| title_full | Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients |
| title_fullStr | Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients |
| title_full_unstemmed | Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients |
| title_short | Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients |
| title_sort | treacher collins syndrome clinical report and retrospective analysis of chinese patients |
| topic | conductive hearing loss craniofacial dysplasia TCOF1 Treacher Collins syndrome |
| url | https://doi.org/10.1002/mgg3.1573 |
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