title: Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.
abstract: Pseudoachondroplasia (PSACH; MIM no. 177170) is an autosomal dominant osteochondrodysplasia characterized by short‑limb short stature, brachydactyly and early‑onset osteoarthropathy. Typically, at approximately two years of age, the rate of growth falls below the standard growth curve, causing a moderately severe form of disproportionate short‑limb short stature. The current study described the clinical and radiographic observations of six Chinese patients with PSACH, and identified two de novo novel missense mutations [p.Asp326Asn (c.976G>A) and c.1585A>G (p.Thr529Ala)] in cartilage oligomeric matrix protein (COMP) in the patients. The current study expanded the mutation spectrum of the COMP gene, and contributes to the understanding of phenotype/genotype of COMP‑associated diseases.
authors.affiliation: Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.
authors.forename: Wei-Jia
authors.initials: WJ
authors.lastname: Yu
authors.affiliation: Department of Orthopedic Surgery, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.
authors.forename: Jin-Wei
authors.initials: JW
authors.lastname: He
authors.affiliation: Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.
authors.forename: Wen-Zhen
authors.initials: WZ
authors.lastname: Fu
authors.affiliation: Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.
authors.forename: Chun
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China.
authors.forename: Zhen-Lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000595:Amino Acid Sequence; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D064236:Cartilage Oligomeric Matrix Protein / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D055815:Young Adult
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; C577553:TSP5 protein, human