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A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
- Source :
-
Journal of medical case reports [J Med Case Rep] 2017 Aug 26; Vol. 11 (1), pp. 237. Date of Electronic Publication: 2017 Aug 26. - Publication Year :
- 2017
-
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.<br />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).<br />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.
- Subjects :
- Arthritis complications
Arthritis diagnosis
Cataract diagnosis
Cataract etiology
Cataract genetics
Child
Child, Preschool
Cleft Palate etiology
Cleft Palate genetics
Collagen Type XI deficiency
Connective Tissue Diseases complications
Connective Tissue Diseases diagnosis
Craniofacial Abnormalities diagnosis
Diagnosis, Differential
Growth Disorders etiology
Growth Disorders genetics
Hearing Loss, Sensorineural complications
Hearing Loss, Sensorineural diagnosis
Humans
Male
Micrognathism etiology
Micrognathism genetics
Mutation
Osteochondrodysplasias diagnosis
Osteochondrodysplasias etiology
Osteochondrodysplasias genetics
Palate, Soft abnormalities
Phenotype
Retinal Detachment complications
Retinal Detachment diagnosis
Arthritis genetics
Collagen Type II genetics
Connective Tissue Diseases genetics
Hearing Loss, Sensorineural genetics
Retinal Detachment genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1752-1947
- Volume :
- 11
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of medical case reports
- Publication Type :
- Academic Journal
- Accession number :
- 28841907
- Full Text :
- https://doi.org/10.1186/s13256-017-1396-y