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A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly
BACKGROUND: Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non‐syndromic postaxial polydactyly (PAP). MET...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266609/ https://www.ncbi.nlm.nih.gov/pubmed/35546307 http://dx.doi.org/10.1002/mgg3.1968 |
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author | Wang, Yusi Hao, Xuguang Jia, Xueyuan Ji, Wei Yuan, Shuai Gnamey, Estelle Judith Abla Huang, Min Xu, Lidan Zhang, Xuelong Bai, Jing Sun, Wenjing Fu, Songbin Liu, Yong Wu, Jie |
author_facet | Wang, Yusi Hao, Xuguang Jia, Xueyuan Ji, Wei Yuan, Shuai Gnamey, Estelle Judith Abla Huang, Min Xu, Lidan Zhang, Xuelong Bai, Jing Sun, Wenjing Fu, Songbin Liu, Yong Wu, Jie |
author_sort | Wang, Yusi |
collection | PubMed |
description | BACKGROUND: Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non‐syndromic postaxial polydactyly (PAP). METHODS: After recruiting a three‐generation family with PAP, whole‐exome sequencing was performed to identify the causative variant. In silico analysis and Sanger sequencing were used to validate the variant. RESULTS: We identified a novel heterozygous frameshift variant (NM_000168.6:c.4540delG, p.Asp1514Thrfs*5) in the transcriptional activator (TA1) domain of the GLI3 gene. CONCLUSION: The novel frameshift variant identified in this study further confirms the relationship between non‐syndromic PAP and GLI3 and extends the previously established mutational and phenotypic spectra of GLI3. |
format | Online Article Text |
id | pubmed-9266609 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-92666092022-07-12 A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly Wang, Yusi Hao, Xuguang Jia, Xueyuan Ji, Wei Yuan, Shuai Gnamey, Estelle Judith Abla Huang, Min Xu, Lidan Zhang, Xuelong Bai, Jing Sun, Wenjing Fu, Songbin Liu, Yong Wu, Jie Mol Genet Genomic Med Original Articles BACKGROUND: Polydactyly is a common congenital malformation characterized by the presence of supernumerary fingers or toes. In this case study, we sought to identify the causative pathogenic factor in a family from a northern region of China affected by non‐syndromic postaxial polydactyly (PAP). METHODS: After recruiting a three‐generation family with PAP, whole‐exome sequencing was performed to identify the causative variant. In silico analysis and Sanger sequencing were used to validate the variant. RESULTS: We identified a novel heterozygous frameshift variant (NM_000168.6:c.4540delG, p.Asp1514Thrfs*5) in the transcriptional activator (TA1) domain of the GLI3 gene. CONCLUSION: The novel frameshift variant identified in this study further confirms the relationship between non‐syndromic PAP and GLI3 and extends the previously established mutational and phenotypic spectra of GLI3. John Wiley and Sons Inc. 2022-05-12 /pmc/articles/PMC9266609/ /pubmed/35546307 http://dx.doi.org/10.1002/mgg3.1968 Text en © 2022 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 Wang, Yusi Hao, Xuguang Jia, Xueyuan Ji, Wei Yuan, Shuai Gnamey, Estelle Judith Abla Huang, Min Xu, Lidan Zhang, Xuelong Bai, Jing Sun, Wenjing Fu, Songbin Liu, Yong Wu, Jie A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly |
title | A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly |
title_full | A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly |
title_fullStr | A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly |
title_full_unstemmed | A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly |
title_short | A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly |
title_sort | novel variant of gli3, p.asp1514thrfs*5, is identified in a chinese family affected by polydactyly |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266609/ https://www.ncbi.nlm.nih.gov/pubmed/35546307 http://dx.doi.org/10.1002/mgg3.1968 |
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