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Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients
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 com...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077114/ https://www.ncbi.nlm.nih.gov/pubmed/33332773 http://dx.doi.org/10.1002/mgg3.1573 |
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author | Pan, Zhaoyu Xu, Hongen Chen, Bei Tian, Yongan Zhang, Linlin Zhang, Sen Liu, Danhua Liu, Huanfei Li, Ruijun Hu, Xinxin Guan, Jingyuan Tang, Wenxue Lu, Wei |
author_facet | Pan, Zhaoyu Xu, Hongen Chen, Bei Tian, Yongan Zhang, Linlin Zhang, Sen Liu, Danhua Liu, Huanfei Li, Ruijun Hu, Xinxin Guan, Jingyuan Tang, Wenxue Lu, Wei |
author_sort | Pan, Zhaoyu |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8077114 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-80771142021-04-29 Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients Pan, Zhaoyu Xu, Hongen Chen, Bei Tian, Yongan Zhang, Linlin Zhang, Sen Liu, Danhua Liu, Huanfei Li, Ruijun Hu, Xinxin Guan, Jingyuan Tang, Wenxue Lu, Wei Mol Genet Genomic Med Original Articles 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. John Wiley and Sons Inc. 2020-12-17 /pmc/articles/PMC8077114/ /pubmed/33332773 http://dx.doi.org/10.1002/mgg3.1573 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Pan, Zhaoyu Xu, Hongen Chen, Bei Tian, Yongan Zhang, Linlin Zhang, Sen Liu, Danhua Liu, Huanfei Li, Ruijun Hu, Xinxin Guan, Jingyuan Tang, Wenxue Lu, Wei Treacher Collins syndrome: Clinical report and retrospective analysis of Chinese patients |
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 | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077114/ https://www.ncbi.nlm.nih.gov/pubmed/33332773 http://dx.doi.org/10.1002/mgg3.1573 |
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