Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.
OBJECTIVE: Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. DESIGN: Using single-strand conformational polym...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
2006
|
| _version_ | 1797092468165967872 |
|---|---|
| author | Jehee, F Alonso, L Cavalcanti, D Kim, C Wall, SA Mulliken, J Sun, M Jabs, E Boyadjiev, SA Wilkie, A Passos-Bueno, MR |
| author_facet | Jehee, F Alonso, L Cavalcanti, D Kim, C Wall, SA Mulliken, J Sun, M Jabs, E Boyadjiev, SA Wilkie, A Passos-Bueno, MR |
| author_sort | Jehee, F |
| collection | OXFORD |
| description | OBJECTIVE: Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. DESIGN: Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. PATIENTS: Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. RESULTS: No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. CONCLUSIONS: FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients. |
| first_indexed | 2024-03-07T03:46:19Z |
| format | Journal article |
| id | oxford-uuid:bf99fbbb-51fe-40d1-854e-7556662f001f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:46:19Z |
| publishDate | 2006 |
| record_format | dspace |
| spelling | oxford-uuid:bf99fbbb-51fe-40d1-854e-7556662f001f2022-03-27T05:48:40ZMutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:bf99fbbb-51fe-40d1-854e-7556662f001fEnglishSymplectic Elements at Oxford2006Jehee, FAlonso, LCavalcanti, DKim, CWall, SAMulliken, JSun, MJabs, EBoyadjiev, SAWilkie, APassos-Bueno, MR OBJECTIVE: Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. DESIGN: Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. PATIENTS: Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. RESULTS: No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. CONCLUSIONS: FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients. |
| spellingShingle | Jehee, F Alonso, L Cavalcanti, D Kim, C Wall, SA Mulliken, J Sun, M Jabs, E Boyadjiev, SA Wilkie, A Passos-Bueno, MR Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. |
| title | Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. |
| title_full | Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. |
| title_fullStr | Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. |
| title_full_unstemmed | Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. |
| title_short | Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. |
| title_sort | mutational screening of fgfr1 cer1 and cdon in a large cohort of trigonocephalic patients |
| work_keys_str_mv | AT jeheef mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT alonsol mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT cavalcantid mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT kimc mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT wallsa mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT mullikenj mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT sunm mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT jabse mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT boyadjievsa mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT wilkiea mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients AT passosbuenomr mutationalscreeningoffgfr1cer1andcdoninalargecohortoftrigonocephalicpatients |