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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.
J Med Case Rep. 2017 Aug 26; 11(1):237.JM

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.

Authors+Show Affiliations

Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan. Department of Pediatrics, Okayama University Hospital, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.Department of Pediatrics, Okayama University Hospital, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan. haseyan@md.okayama-u.ac.jp.Department of Pediatrics, Okayama University Hospital, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan. Faculty of Human Life Sciences, Notre Dame Seishin University, 9-16-2 Ifuku-cho, Okayama, 700-8516, Japan.Department of Pediatrics, Okayama Saiseikai General Hospital, 1-7-18 Ifuku-cho, Kita-ku, Okayama, 700-8511, Japan.Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama, 700-8558, Japan.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

28841907

Citation

Higuchi, Yousuke, et al. "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, vol. 11, no. 1, 2017, p. 237.
Higuchi Y, Hasegawa K, Yamashita M, et al. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. J Med Case Rep. 2017;11(1):237.
Higuchi, Y., Hasegawa, K., Yamashita, M., Tanaka, H., & Tsukahara, H. (2017). 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, 11(1), 237. https://doi.org/10.1186/s13256-017-1396-y
Higuchi Y, et al. A Novel Mutation in the COL2A1 Gene in a Patient With Stickler Syndrome Type 1: a Case Report and Review of the Literature. J Med Case Rep. 2017 Aug 26;11(1):237. PubMed PMID: 28841907.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature. AU - Higuchi,Yousuke, AU - Hasegawa,Kosei, AU - Yamashita,Miho, AU - Tanaka,Hiroyuki, AU - Tsukahara,Hirokazu, Y1 - 2017/08/26/ PY - 2016/11/12/received PY - 2017/07/20/accepted PY - 2017/8/27/entrez PY - 2017/8/27/pubmed PY - 2018/5/9/medline KW - COL2A1 KW - Marshall syndrome KW - Stickler syndrome KW - Type II collagenopathy SP - 237 EP - 237 JF - Journal of medical case reports JO - J Med Case Rep VL - 11 IS - 1 N2 - 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. SN - 1752-1947 UR - https://www.unboundmedicine.com/medline/citation/28841907/A_novel_mutation_in_the_COL2A1_gene_in_a_patient_with_Stickler_syndrome_type_1:_a_case_report_and_review_of_the_literature_ L2 - https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-017-1396-y DB - PRIME DP - Unbound Medicine ER -