A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
Abstract Background Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, cau...
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| Format: | Article |
| Language: | English |
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BMC
2017-08-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | http://link.springer.com/article/10.1186/s13256-017-1396-y |
| _version_ | 1819022097947557888 |
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| author | Yousuke Higuchi Kosei Hasegawa Miho Yamashita Hiroyuki Tanaka Hirokazu Tsukahara |
| author_facet | Yousuke Higuchi Kosei Hasegawa Miho Yamashita Hiroyuki Tanaka Hirokazu Tsukahara |
| author_sort | Yousuke Higuchi |
| collection | DOAJ |
| description | Abstract Background Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. Case presentation A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, −2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (−1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp). Conclusions In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder. |
| first_indexed | 2024-12-21T04:17:35Z |
| format | Article |
| id | doaj.art-bb613891d1b64148af81f3842d530f43 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-21T04:17:35Z |
| publishDate | 2017-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-bb613891d1b64148af81f3842d530f432022-12-21T19:16:16ZengBMCJournal of Medical Case Reports1752-19472017-08-011111610.1186/s13256-017-1396-yA novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literatureYousuke Higuchi0Kosei Hasegawa1Miho Yamashita2Hiroyuki Tanaka3Hirokazu Tsukahara4Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical SciencesDepartment of Pediatrics, Okayama University HospitalDepartment of Pediatrics, Okayama University HospitalDepartment of Pediatrics, Okayama Saiseikai General HospitalDepartment of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical SciencesAbstract Background Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. Case presentation A 2-year-old Japanese boy was presented to our hospital with short stature (79.1 cm, −2.52 standard deviation). His past medical history was significant for soft cleft palate and bilateral cataracts. He had a flat midface, micrognathia, and limitations in bilateral elbow flexion. Radiographs showed mild spondyloepiphyseal dysplasia. Initially, we suspected Marshall syndrome, but no mutation was identified in COL11A1. At 8 years old, his height was 116.2 cm (−1.89 standard deviation), and his orofacial characteristics appeared unremarkable. We analyzed the COL2A1 gene and found a novel heterozygous mutation (c.1142 G > A, p.Gly381Asp). Conclusions In this case report, we identify a novel missense mutation in the COL2A1 gene in a patient with Stickler syndrome type 1, and we describe age-related changes in the clinical phenotype with regard to orofacial characteristics and height. Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.http://link.springer.com/article/10.1186/s13256-017-1396-yStickler syndromeCOL2A1Type II collagenopathyMarshall syndrome |
| spellingShingle | Yousuke Higuchi Kosei Hasegawa Miho Yamashita Hiroyuki Tanaka Hirokazu Tsukahara A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature Journal of Medical Case Reports Stickler syndrome COL2A1 Type II collagenopathy Marshall syndrome |
| title | A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature |
| title_full | A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature |
| title_fullStr | A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature |
| title_full_unstemmed | A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature |
| title_short | A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature |
| title_sort | novel mutation in the col2a1 gene in a patient with stickler syndrome type 1 a case report and review of the literature |
| topic | Stickler syndrome COL2A1 Type II collagenopathy Marshall syndrome |
| url | http://link.springer.com/article/10.1186/s13256-017-1396-y |
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