Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation
Abstract Background The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Methods In a retrospective study, clinic...
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| Format: | Article |
| Language: | English |
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BMC
2020-12-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-020-00843-5 |
| _version_ | 1830462514408718336 |
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| author | Rong Yu Hongqun Jiang Huihuang Liao Wugen Luo |
| author_facet | Rong Yu Hongqun Jiang Huihuang Liao Wugen Luo |
| author_sort | Rong Yu |
| collection | DOAJ |
| description | Abstract Background The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Methods In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them. Results The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6:c.532T > C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation. Conclusion Analysis of this family showed that the novel presentation of the c.532T > C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis. |
| first_indexed | 2024-12-21T11:45:53Z |
| format | Article |
| id | doaj.art-d1af2c305dc2451babe4a083a7b8b20b |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-21T11:45:53Z |
| publishDate | 2020-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-d1af2c305dc2451babe4a083a7b8b20b2022-12-21T19:05:10ZengBMCBMC Medical Genomics1755-87942020-12-011311710.1186/s12920-020-00843-5Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutationRong Yu0Hongqun Jiang1Huihuang Liao2Wugen Luo3Department of ENT, First Affiliated Hospital of Nanchang UniversityDepartment of ENT, First Affiliated Hospital of Nanchang UniversityDepartment of ENT, First Affiliated Hospital of Nanchang UniversityDepartment of ENT, First Affiliated Hospital of Nanchang UniversityAbstract Background The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness. Methods In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them. Results The sequencing analysis indicated that in the proband, the NOG gene had a c.532T > C, p.C178R (cytosine deletion, NM_005450.6:c.532T > C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation. Conclusion Analysis of this family showed that the novel presentation of the c.532T > C, p.C178R mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis.https://doi.org/10.1186/s12920-020-00843-5GeneDeafnessStapes sclerosis |
| spellingShingle | Rong Yu Hongqun Jiang Huihuang Liao Wugen Luo Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation BMC Medical Genomics Gene Deafness Stapes sclerosis |
| title | Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation |
| title_full | Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation |
| title_fullStr | Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation |
| title_full_unstemmed | Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation |
| title_short | Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation |
| title_sort | genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an nog mutation |
| topic | Gene Deafness Stapes sclerosis |
| url | https://doi.org/10.1186/s12920-020-00843-5 |
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