A novel COMP mutation in a Chinese patient with pseudoachondroplasia |
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Authors: | Xuemei Xie Lihong LiaoJinzhi Gao Xiaoping Luo |
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Affiliation: | Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030, China |
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Abstract: | A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus and waddling gait. Radiologically, tubular bones were short with widened metaphyses, irregular and small epiphyses; anterior tonguing or beaking of vertebral bodies were characteristic. DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c.1511G>A, p.Cys504Tyr) in the patient but his parents were unaffected without this genetic change. The missense mutation (c.1511G>A) was not found in 100 healthy controls and has not been reported previously. Our findings expand the spectrum of known mutations in COMP leading to pseudoachondroplasia. |
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Keywords: | PSACH, pseudoachondroplasia COMP, cartilage oligomeric matrix protein COMP, gene encodes cartilage oligomeric matrix protein TSP, thrombospondin EGF-like, type 2 epidermal growth factor-like domains TSP type-3, type 3 calmodulin-like repeats CTD, carboxyl terminal globular domain |
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