Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia
Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic...
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| Autor*in: |
Pan, Yuhua [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 |
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| Übergeordnetes Werk: |
Enthalten in: Clinical Oral Investigations - Springer-Verlag, 2001, 26(2022), 8 vom: 31. Mai, Seite 5171-5179 |
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| Übergeordnetes Werk: |
volume:26 ; year:2022 ; number:8 ; day:31 ; month:05 ; pages:5171-5179 |
| Links: |
|---|
| DOI / URN: |
10.1007/s00784-022-04485-y |
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SPR047859334 |
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| 520 | |a Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. | ||
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10.1007/s00784-022-04485-y doi (DE-627)SPR047859334 (SPR)s00784-022-04485-y-e DE-627 ger DE-627 rakwb eng Pan, Yuhua verfasserin aut Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. Missense heterozygous mutation (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Yi, Sheng aut Chen, Dong aut Du, Xinya aut Yao, Xinchen aut He, Fei aut Xiong, Fu (orcid)0000-0003-2428-6165 aut Enthalten in Clinical Oral Investigations Springer-Verlag, 2001 26(2022), 8 vom: 31. Mai, Seite 5171-5179 (DE-627)SPR007794231 nnns volume:26 year:2022 number:8 day:31 month:05 pages:5171-5179 https://dx.doi.org/10.1007/s00784-022-04485-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 26 2022 8 31 05 5171-5179 |
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10.1007/s00784-022-04485-y doi (DE-627)SPR047859334 (SPR)s00784-022-04485-y-e DE-627 ger DE-627 rakwb eng Pan, Yuhua verfasserin aut Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. Missense heterozygous mutation (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Yi, Sheng aut Chen, Dong aut Du, Xinya aut Yao, Xinchen aut He, Fei aut Xiong, Fu (orcid)0000-0003-2428-6165 aut Enthalten in Clinical Oral Investigations Springer-Verlag, 2001 26(2022), 8 vom: 31. Mai, Seite 5171-5179 (DE-627)SPR007794231 nnns volume:26 year:2022 number:8 day:31 month:05 pages:5171-5179 https://dx.doi.org/10.1007/s00784-022-04485-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 26 2022 8 31 05 5171-5179 |
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10.1007/s00784-022-04485-y doi (DE-627)SPR047859334 (SPR)s00784-022-04485-y-e DE-627 ger DE-627 rakwb eng Pan, Yuhua verfasserin aut Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. Missense heterozygous mutation (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Yi, Sheng aut Chen, Dong aut Du, Xinya aut Yao, Xinchen aut He, Fei aut Xiong, Fu (orcid)0000-0003-2428-6165 aut Enthalten in Clinical Oral Investigations Springer-Verlag, 2001 26(2022), 8 vom: 31. Mai, Seite 5171-5179 (DE-627)SPR007794231 nnns volume:26 year:2022 number:8 day:31 month:05 pages:5171-5179 https://dx.doi.org/10.1007/s00784-022-04485-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 26 2022 8 31 05 5171-5179 |
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10.1007/s00784-022-04485-y doi (DE-627)SPR047859334 (SPR)s00784-022-04485-y-e DE-627 ger DE-627 rakwb eng Pan, Yuhua verfasserin aut Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. Missense heterozygous mutation (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Yi, Sheng aut Chen, Dong aut Du, Xinya aut Yao, Xinchen aut He, Fei aut Xiong, Fu (orcid)0000-0003-2428-6165 aut Enthalten in Clinical Oral Investigations Springer-Verlag, 2001 26(2022), 8 vom: 31. Mai, Seite 5171-5179 (DE-627)SPR007794231 nnns volume:26 year:2022 number:8 day:31 month:05 pages:5171-5179 https://dx.doi.org/10.1007/s00784-022-04485-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 26 2022 8 31 05 5171-5179 |
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10.1007/s00784-022-04485-y doi (DE-627)SPR047859334 (SPR)s00784-022-04485-y-e DE-627 ger DE-627 rakwb eng Pan, Yuhua verfasserin aut Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. Missense heterozygous mutation (dpeaa)DE-He213 Sanger sequencing (dpeaa)DE-He213 Yi, Sheng aut Chen, Dong aut Du, Xinya aut Yao, Xinchen aut He, Fei aut Xiong, Fu (orcid)0000-0003-2428-6165 aut Enthalten in Clinical Oral Investigations Springer-Verlag, 2001 26(2022), 8 vom: 31. Mai, Seite 5171-5179 (DE-627)SPR007794231 nnns volume:26 year:2022 number:8 day:31 month:05 pages:5171-5179 https://dx.doi.org/10.1007/s00784-022-04485-y lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 26 2022 8 31 05 5171-5179 |
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Pan, Yuhua |
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identification of a novel missense heterozygous mutation in the kdf1 gene for non-syndromic congenital anodontia |
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Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia |
| abstract |
Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 |
| abstractGer |
Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 |
| abstract_unstemmed |
Objectives KDF1 is a recently identified gene related to tooth development, but it has been little studied. To date, only three cases have been reported in which KDF1 mutations are related to tooth development, including two ectodermal dysplasia cases accompanied by tooth loss and one non-syndromic case with tooth agenesis. However, no KDF1 mutations have been reported as associated with non-syndromic anodontia. Here, the aim was to investigate the genetic etiology of this condition and explore the functional role of a novel KDF1 mutation in a Chinese patient with non-syndromic anodontia. Materials and methods Pathogenic variants were identified by whole-exome and Sanger sequencing. Meanwhile, we conducted a literature review of the reported KDF1 mutations and performed an in vitro functional analysis of four anodontia-causing KDF1 mutations (one novel and three known). Results We identified a novel de novo missense mutation (c.911 T > A, p.I304N) in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia. In vitro functional studies showed altered mRNA and protein expression levels of the mutant KDF1. Conclusions Our results are the first report of KDF1 missense mutation causing non-syndromic anodontia. Clinical relevance This study not only further supports the important role of KDF1 in non-syndromic congenital anodontia, but also expands the spectrum of KDF1 mutations and will contribute to the genetic diagnosis and counselling of families with anodontia. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022 |
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Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia |
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Yi, Sheng Chen, Dong Du, Xinya Yao, Xinchen He, Fei Xiong, Fu |
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