The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study
Objective: Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with vision and auditory defects. In this study, we h...
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| Format: | Article |
| Language: | English |
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AIMS Press
2021-02-01
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| Series: | AIMS Molecular Science |
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| Online Access: | http://www.aimspress.com/article/doi/10.3934/molsci.2021006?viewType=HTML |
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| author | Mohammad Shboul Hela Sassi Houweyda Jilani Imen Rejeb Yasmina Elaribi Syrine Hizem Lamia Ben Jemaa Marwa Hilmi Susanna Gerit Kircher Ali Al Kaissi |
| author_facet | Mohammad Shboul Hela Sassi Houweyda Jilani Imen Rejeb Yasmina Elaribi Syrine Hizem Lamia Ben Jemaa Marwa Hilmi Susanna Gerit Kircher Ali Al Kaissi |
| author_sort | Mohammad Shboul |
| collection | DOAJ |
| description | Objective:
Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with vision and auditory defects. In this study, we have investigated in more detail the phenotypic and genotypic characterization resulting from glycine to serine mutations in the COL2A1 gene in a 2-year-old boy.
Materials and methods:
Detailed clinical and radiological phenotypic characterization was the baseline tool to guide the geneticists toward proper genotypic confirmation.
Results:
Genetic analysis revealed a de novo mutation, c.1681G>A (p.Gly561Ser), in the collagen type II alpha-1 gene (COL2A1). The identified variant showed impaired protein stability, and lead to dysfunction of type II collagen. In addition to pre and postnatal growth retardation, remarkable retardation of gross motor development and intellectual disability were noted. The latter was connected to cerebral malformations. The overall clinical phenotype of our current patient resembles spondyloepiphyseal dysplasia congenita (SEDC), but with extra phenotypic criteria.
Conclusions:
The aim of this paper is twofold; firstly, raising awareness among orthopaedic surgeons when dealing with children manifesting multiple deformities, and secondly to broaden the clinical phenotype in patients with COL2A1 mutations of amino acid substitution (glycine to serine). |
| first_indexed | 2024-04-14T07:21:50Z |
| format | Article |
| id | doaj.art-9c3c872dcc524ba59cff224ed5df0062 |
| institution | Directory Open Access Journal |
| issn | 2372-0301 |
| language | English |
| last_indexed | 2024-04-14T07:21:50Z |
| publishDate | 2021-02-01 |
| publisher | AIMS Press |
| record_format | Article |
| series | AIMS Molecular Science |
| spelling | doaj.art-9c3c872dcc524ba59cff224ed5df00622022-12-22T02:06:08ZengAIMS PressAIMS Molecular Science2372-03012021-02-0181768510.3934/molsci.2021006The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview studyMohammad Shboul0Hela Sassi1Houweyda Jilani 2Imen Rejeb3Yasmina Elaribi 4Syrine Hizem5Lamia Ben Jemaa6Marwa Hilmi7Susanna Gerit Kircher8Ali Al Kaissi 91. Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan2. Department of Human Genetics, Mongi Slim Hospital Marsa, Tunis, Tunisia 3. Genetic department, Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia2. Department of Human Genetics, Mongi Slim Hospital Marsa, Tunis, Tunisia 3. Genetic department, Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia2. Department of Human Genetics, Mongi Slim Hospital Marsa, Tunis, Tunisia2. Department of Human Genetics, Mongi Slim Hospital Marsa, Tunis, Tunisia 3. Genetic department, Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia2. Department of Human Genetics, Mongi Slim Hospital Marsa, Tunis, Tunisia 3. Genetic department, Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia2. Department of Human Genetics, Mongi Slim Hospital Marsa, Tunis, Tunisia 3. Genetic department, Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia4. Family Medicine Operations, Omar Bin Al Khatab Hospital, Doha, Qatar5. Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria6. National Medical Research Center for Traumatology and Ortopedics n.a. G.A. Ilizarov, Kurgan, Russia 7. Orthopaedic Hospital of Speising, Paediatric Department, Vienna, AustriaObjective: Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with vision and auditory defects. In this study, we have investigated in more detail the phenotypic and genotypic characterization resulting from glycine to serine mutations in the COL2A1 gene in a 2-year-old boy. Materials and methods: Detailed clinical and radiological phenotypic characterization was the baseline tool to guide the geneticists toward proper genotypic confirmation. Results: Genetic analysis revealed a de novo mutation, c.1681G>A (p.Gly561Ser), in the collagen type II alpha-1 gene (COL2A1). The identified variant showed impaired protein stability, and lead to dysfunction of type II collagen. In addition to pre and postnatal growth retardation, remarkable retardation of gross motor development and intellectual disability were noted. The latter was connected to cerebral malformations. The overall clinical phenotype of our current patient resembles spondyloepiphyseal dysplasia congenita (SEDC), but with extra phenotypic criteria. Conclusions: The aim of this paper is twofold; firstly, raising awareness among orthopaedic surgeons when dealing with children manifesting multiple deformities, and secondly to broaden the clinical phenotype in patients with COL2A1 mutations of amino acid substitution (glycine to serine).http://www.aimspress.com/article/doi/10.3934/molsci.2021006?viewType=HTMLmutation col2a1spondyloepiphyseal dysplasia congenitaextended phenotype |
| spellingShingle | Mohammad Shboul Hela Sassi Houweyda Jilani Imen Rejeb Yasmina Elaribi Syrine Hizem Lamia Ben Jemaa Marwa Hilmi Susanna Gerit Kircher Ali Al Kaissi The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study AIMS Molecular Science mutation col2a1 spondyloepiphyseal dysplasia congenita extended phenotype |
| title | The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study |
| title_full | The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study |
| title_fullStr | The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study |
| title_full_unstemmed | The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study |
| title_short | The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study |
| title_sort | phenotypic spectrum in a patient with glycine to serine mutation in the col2a1 gene overview study |
| topic | mutation col2a1 spondyloepiphyseal dysplasia congenita extended phenotype |
| url | http://www.aimspress.com/article/doi/10.3934/molsci.2021006?viewType=HTML |
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