[1] TERHAL P A, VAN DOMMELEN P, LE MERRER M, et al. Mutation-based growth charts for sedc and other COL2A1 related dysplasias[J]. Am J Med Genet C Semin Med Genet, 2012, 160C(3):205-216. [2] BARAT-HOUARI M, SARRABAY G, GATINOIS V, et al. Mutation update forCOL2A1 gene variants associated with type Ⅱ collagenopathies[J]. Hum Mutat, 2016, 37(1):7-15. [3] BRODSKY B, THIAGARAJAN G, MADHAN B, et al. Triple-helical peptides:An approach to collagen conformation, stability, and self-association[J]. Biopolymers, 2008, 89(5):345-353. [4] ROUGHLEY P J. Articular cartilage and changes in arthritis:Noncollagenous proteins and proteoglycans in the extracellular matrix of cartilage[J]. Arthritis Res, 2001, 3(6):342-347. [5] FAIVRE L, LE MERRER M, DOUVIER S, et al. Recurrence of achondrogenesis type Ⅱ within the same family:Evidence for germline mosaicism[J]. Am J Med Genet A, 2004, 126A(3):308-312. [6] NISHIMURA G, NAKASHIMA E, MABUCHI A, et al. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, torrance type[J]. J Med Genet, 2004, 41(1):75-79. [7] OKAMOTO T, NAGAYA K, ASAI H, et al. Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents[J]. Am J Med Genet A, 2012, 158A(8):1953-1956. [8] DESIR J, CASSART M, DONNER C, et al. Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation[J]. Am J Med Genet A, 2012, 158A(8):1948-1952. [9] ZHANG Z, HE J W, FU W Z, et al. Identification of three novel mutations in the COL2A1 gene in four unrelated chinese families with spondyloepiphyseal dysplasia congenita[J]. Biochem Biophys Res Co, 2011, 413(4):504-508. [10] SILVEIRA K C, BONADIA L C, SUPERTI-FURGA A, et al. Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up[J]. Am J Med Genet A, 2015, 167A(4):894-901. [11] ZHANG Z, ZHAO S C, HE J W, et al. Identification of one novel mutation in the c-propeptide of COL2A1 in a chinese family with spondyloperipheral dysplasia[J]. Gene, 2013, 522(1):107-110. [12] ZANKL A, ZABEL B, HILBERT K, et al. Spondyloperipheral dysplasia is caused by truncating mutations in the c-propeptide of COL2A1[J]. Am J Med Genet A, 2004, 129A(2):144-148. [13] BEDESCHI M F, BIANCHI V, GENTILIN B, et al. Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a c-propeptide mutation in COL2A1:Case report[J]. Orphanet J Rare Dis, 2011, 6:7. [14] MACHOL K, JAIN M, ALMANNAI M, et al. Corner fracture type spondylometaphyseal dysplasia:Overlap with type Ⅱ collagenopathies[J]. Am J Med Genet A, 2017, 173(3):733-739. [15] JURGENS J, SOBREIRA N, MODAFF P, et al. Novel col2a1 variant (c.619g>a, p.Gly207arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, stanescu type[J]. Hum Mutat, 2015, 36(10):1004-1008. [16] KOZLOWSKI K, BACHA L, MASSEN R, et al. A new type of spondylo-metaphyseal dysplasia——algerian type. Report of five cases[J]. Pediatr Radiol, 1988, 18(3):221-226. [17] MATSUBAYASHI S, IKEMA M, NINOMIYA Y, et al. COL2A1 mutation in spondylometaphyseal dysplasia algerian type[J]. Mol Syndromol, 2013, 4(3):148-151. [18] HOORNAERT K P, DEWINTER C, VEREECKE I, et al. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene[J]. J Med Genet, 2006, 43(5):406-413. [19] MEREDITH S P, RICHARDS A J, BEARCROFT P, et al. Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type Ⅱ collagen[J]. Br J Ophthalmol, 2007, 91(9):1148-1151. [20] DASA V, EASTWOOD J R B, PODGORSKI M, et al. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia[J]. Am J Med Genet A, 2019, 179(4):534-541. [21] JACKSON G C, MITTAZ-CRETTOL L, TAYLOR J A, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia:A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution[J]. Hum Mutat, 2012, 33(1):144-157. [22] CHEN W M, LIU Y F, LIN M W, et al. Autosomal dominant avascular necrosis of femoral head in two taiwanese pedigrees and linkage to chromosome 12q13[J]. Am J Hum Genet, 2004, 75(2):310-317. [23] LIU Y F, CHEN W M, LIN Y F, et al. Type Ⅱ collagen gene variants and inherited osteonecrosis of the femoral head[J]. N Engl J Med, 2005, 352(22):2294-2301. [24] SU P Q, ZHANG L M, PENG Y, et al. A histological and ultrastructural study of femoral head cartilage in a new type Ⅱ collagenopathy[J]. Int Orthop, 2010, 34(8):1333-1339. [25] WANG L, PANH H, ZHU Z N. A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis[J]. Mol Med Rep, 2014, 10(4):1835-1838. [26] LIU F, XIONG Z Z, LIU Q, et al. COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a chinese family:A case report[J]. Mol Med Rep, 2018, 18(1):254-260. [27] KISHIYA M, NAKAMURA Y, OHISHI H, et al. Identification of a novel COL2A1 mutation (c.1744G>A) in a japanese family:A case report[J]. J Med Case Rep, 2014, 8:276. [28] SAKAMOTO Y, YAMAMOTO T, MIYAKE N, et al. Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head[J]. J Orthop Res, 2017, 35(4):768-774. [29] LI N, YU J, CAO X, et al. A novel p. Gly630ser mutation of COL2A1 in a chinese family with presentations of legg-calve-perthes disease or avascular necrosis of the femoral head[J]. PLoS One, 2014, 9(6):e100505. [30] KANNU P, IRVING M, AFTIMOS S, et al. Two novel COL2A1 mutations associated with a Legg-Calve-Perthes disease-like presentation[J]. Clin Orthop Relat Res, 2011, 469(6):1785-1790. [31] RUKAVINA I, MORTIER G, VAN LAER L, et al. Mutation in the type Ⅱ collagen gene (col2ai) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement[J]. Semin Arthritis Rheum, 2014, 44(1):101-104. [32] SNEAD M P, YATES J R. Clinical and molecular genetics of stickler syndrome[J]. J Med Genet, 1999, 36(5):353-359. [33] WUBBEN T J, BRANHAM K H, BESIRLI C G, et al. Retinal detachment and infantile-onset glaucoma in stickler syndrome associated with known and novel COL2A1 mutations[J]. Ophthalmic Genet, 2018, 39(5):615-618. [34] ROCHA CABRERA P, CORDOVES DORTA L, SERRANO GARCIA M A, et al. Genetic variant of stickler's syndrome[J]. Arch Soc Esp Oftalmol, 2018, 93(3):139-142. [35] TRAN-VIET K N, SOLER V, QUIETTE V, et al. Mutation in collagen Ⅱ alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes[J]. Mol Vis, 2013, 19:759-766. [36] GUPTA S K, LEONARD B C, DAMJI K F, et al. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration[J]. Am J Ophthalmol, 2002, 133(2):203-210. [37] KORKKO J, RITVANIEMI P, HAATAJA L, et al. Mutation in type Ⅱ procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment:Evidence for molecular heterogeneity in the wagner syndrome and the stickler syndrome (arthro-ophthalmopathy)[J]. Am J Hum Genet, 1993, 53(1):55-61. [38] SUN W M, HUANG L, XU Y, et al. Exome sequencing on 298 probands with early-onset high myopia:Approximately one-fourth show potential pathogenic mutations in retnet genes[J]. Invest Ophthalmol Vis Sci, 2015, 56(13):8365-8372. [39] HOORNAERT K P, MARIK I, KOZLOWSKI K, et al. Czech dysplasia metatarsal type:Another type Ⅱ collagen disorder[J]. Eur J Hum Genet, 2007, 15(12):1269-1275. [40] BURRAGE L C, LU J T, LIU D S, et al. Early childhood presentation of czech dysplasia[J]. Clin Dysmorphol, 2013, 22(2):76-80. [41] MATSUI Y, MICHIGAMI T, TACHIKAWA K, et al. Czech dysplasia occurring in a japanese family[J]. Am J Med Genet A, 2009, 149A(10):2285-2289. [42] TZSCHACH A, TINSCHERT S, KAMINSKY E, et al. Czech dysplasia:Report of a large family and further delineation of the phenotype[J]. Am J Med Genet A, 2008, 146A(14):1859-1864. [43] MERRICK B, CALDER A, WAKELING E. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation:Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-strudwick type (SEMD-S)[J]. Am J Med Genet A, 2015, 167A(12):3103-3107. [44] GUNES N, YESIL G, BENG K, et al. Longitudinal follow-up of two patients with dysspondyloenchondromatosis due to novel heterozygous mutations in COL2A1[J]. Mol Syndromol, 2018, 9(3):134-140. [45] TOKGOZ-YILMAZ S, SAHLI S, FITOZ S, et al. Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL2A1[J]. Int J Pediatr Otorhinolaryngol, 2011, 75(3):433-437. [46] MIYAMOTO Y, NAKASHIMA E, HIRAOKA H, et al. A type Ⅱ collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia[J]. Hum Genet, 2005, 118(2):175-178. |