Two novel mutations within FREM1 gene in patients with bifid nose
Abstract Background Bifid nose is a rare congenital deformity and the etiology is unknown. The purpose of this study was to report genetic variation in family of patients with bifid nose. Methods Twenty-three consecutive patients who were diagnosed with mild bifid nose were operated with z-plasty fr...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-12-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-023-04453-9 |
| _version_ | 1797388059979808768 |
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| author | Xiaoxue Chen Baofu Yu Zi Wang Qingfeng Li Chuanchang Dai Jiao Wei |
| author_facet | Xiaoxue Chen Baofu Yu Zi Wang Qingfeng Li Chuanchang Dai Jiao Wei |
| author_sort | Xiaoxue Chen |
| collection | DOAJ |
| description | Abstract Background Bifid nose is a rare congenital deformity and the etiology is unknown. The purpose of this study was to report genetic variation in family of patients with bifid nose. Methods Twenty-three consecutive patients who were diagnosed with mild bifid nose were operated with z-plasty from 2009 to 2021. Three underage patients (a pair of twins and a girl) from two family lines, who came to our hospital for surgical treatment, were enrolled. Whole exome sequencing and Sanger sequencing were conducted. Z-shaped flaps were created and the cartilago alaris major were re-stitched. Photographs and CT scan before and after surgery were obtained. Clinical outcomes, complications and patients’ satisfaction were evaluated and analyzed. The follow-up time ranges from 2 to 3 years (2.4 ± 1.2 years). Results Most patients were satisfied with the outcome (96.2%). The nasal deformities were corrected successfully with z-plasty technique in one-stage. FREM1 c.870_876del and c.2 T > C were detected with Whole exome sequencing, which have not been reported before. The results of Sanger sequencing were consistent with those of Whole exome sequencing. Conclusions The newly detected mutations of FREM1 have a certain heritability, and are helpful to make an accurate diagnosis and provide a better understanding of bifid nose mechanism. Z-plasty technique can be an effective technical approach for correcting mild bifid nose deformity. |
| first_indexed | 2024-03-08T22:35:16Z |
| format | Article |
| id | doaj.art-55c4ce05dade46549c3973bdc4509927 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-03-08T22:35:16Z |
| publishDate | 2023-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-55c4ce05dade46549c3973bdc45099272023-12-17T12:30:11ZengBMCBMC Pediatrics1471-24312023-12-0123111210.1186/s12887-023-04453-9Two novel mutations within FREM1 gene in patients with bifid noseXiaoxue Chen0Baofu Yu1Zi Wang2Qingfeng Li3Chuanchang Dai4Jiao Wei5Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital Affiliated to Shanghai Jiaotong University School of MedicineAbstract Background Bifid nose is a rare congenital deformity and the etiology is unknown. The purpose of this study was to report genetic variation in family of patients with bifid nose. Methods Twenty-three consecutive patients who were diagnosed with mild bifid nose were operated with z-plasty from 2009 to 2021. Three underage patients (a pair of twins and a girl) from two family lines, who came to our hospital for surgical treatment, were enrolled. Whole exome sequencing and Sanger sequencing were conducted. Z-shaped flaps were created and the cartilago alaris major were re-stitched. Photographs and CT scan before and after surgery were obtained. Clinical outcomes, complications and patients’ satisfaction were evaluated and analyzed. The follow-up time ranges from 2 to 3 years (2.4 ± 1.2 years). Results Most patients were satisfied with the outcome (96.2%). The nasal deformities were corrected successfully with z-plasty technique in one-stage. FREM1 c.870_876del and c.2 T > C were detected with Whole exome sequencing, which have not been reported before. The results of Sanger sequencing were consistent with those of Whole exome sequencing. Conclusions The newly detected mutations of FREM1 have a certain heritability, and are helpful to make an accurate diagnosis and provide a better understanding of bifid nose mechanism. Z-plasty technique can be an effective technical approach for correcting mild bifid nose deformity.https://doi.org/10.1186/s12887-023-04453-9Bifid noseFREM1 gene mutationTessier No.0Frontonasal dysplasia |
| spellingShingle | Xiaoxue Chen Baofu Yu Zi Wang Qingfeng Li Chuanchang Dai Jiao Wei Two novel mutations within FREM1 gene in patients with bifid nose BMC Pediatrics Bifid nose FREM1 gene mutation Tessier No.0 Frontonasal dysplasia |
| title | Two novel mutations within FREM1 gene in patients with bifid nose |
| title_full | Two novel mutations within FREM1 gene in patients with bifid nose |
| title_fullStr | Two novel mutations within FREM1 gene in patients with bifid nose |
| title_full_unstemmed | Two novel mutations within FREM1 gene in patients with bifid nose |
| title_short | Two novel mutations within FREM1 gene in patients with bifid nose |
| title_sort | two novel mutations within frem1 gene in patients with bifid nose |
| topic | Bifid nose FREM1 gene mutation Tessier No.0 Frontonasal dysplasia |
| url | https://doi.org/10.1186/s12887-023-04453-9 |
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