Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman
Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date,...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1092301/full |
| _version_ | 1797962264280563712 |
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| author | Harry Pachajoa Harry Pachajoa Diana Marcela Vasquez-Forero Diana Marcela Vasquez-Forero Sebastian Giraldo-Ocampo |
| author_facet | Harry Pachajoa Harry Pachajoa Diana Marcela Vasquez-Forero Diana Marcela Vasquez-Forero Sebastian Giraldo-Ocampo |
| author_sort | Harry Pachajoa |
| collection | DOAJ |
| description | Craniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism. |
| first_indexed | 2024-04-11T01:10:38Z |
| format | Article |
| id | doaj.art-3f89fb0b503046ca9be396353f2f1d37 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T01:10:38Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-3f89fb0b503046ca9be396353f2f1d372023-01-04T06:28:18ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-01-011310.3389/fgene.2022.10923011092301Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian womanHarry Pachajoa0Harry Pachajoa1Diana Marcela Vasquez-Forero2Diana Marcela Vasquez-Forero3Sebastian Giraldo-Ocampo4Genetics Division, Fundación Valle del Lili, Cali, ColombiaCentro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, ColombiaGenetics Division, Fundación Valle del Lili, Cali, ColombiaCentro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, ColombiaDepartamento de Microbiología, Universidad del Valle, Cali, ColombiaCraniofrontonasal Syndrome is a very rare dominant X-linked genetic disorder characterized by symptoms such as hypertelorism, craniosynostosis, eye alterations, bifid nose tip, and longitudinal ridging and splitting of nails. Heterozygous females are usually the patients severely affected. To date, clinical or genetic data have not been published for these patients in Colombia. Here we report a female proband with coronal craniosynostosis, hypertelorism, strabismus, rotational nystagmus, high-arched palate, dental crowding, scoliosis, severe pectus excavatum, unilateral breast hypoplasia, and brachydactyly; diagnosed with Craniofrontonasal Syndrome with the novel heterozygous variant c.374A>C (p.Glu125Ala) in the EFNB1 gene. So far, she has been treated with physical therapy and surgical correction of the bifid nose and an umbilical hernia. To the best of our knowledge, this is the first report of a patient with this rare genetic disorder in Colombia, expanding its mutational spectrum and highlighting the importance of genetic evaluation of patients with craniosynostosis and facial dysmorphism.https://www.frontiersin.org/articles/10.3389/fgene.2022.1092301/fullfrontonasal dysplasiacraniosynostosishypertelorismEFNB1 genecase report |
| spellingShingle | Harry Pachajoa Harry Pachajoa Diana Marcela Vasquez-Forero Diana Marcela Vasquez-Forero Sebastian Giraldo-Ocampo Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman Frontiers in Genetics frontonasal dysplasia craniosynostosis hypertelorism EFNB1 gene case report |
| title | Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman |
| title_full | Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman |
| title_fullStr | Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman |
| title_full_unstemmed | Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman |
| title_short | Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman |
| title_sort | case report craniofrontonasal syndrome caused by a novel variant in the efnb1 gene in a colombian woman |
| topic | frontonasal dysplasia craniosynostosis hypertelorism EFNB1 gene case report |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1092301/full |
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