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Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
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- Author:
- No author available
- Journal Title:
- Chinese Medical Journal
- Issue:
- 1
- DOI:
- 10.4103/0366-6999.196568
- Key Word:
- Avascular Necrosis of the Femoral Head;Cartilage Oligomeric Matrix Protein;Collagen Type Ⅱ Alpha 1;Differential Diagnosis;Whole-exome Sequencing
Abstract： INTRODUCTIONMultiple epiphyseal dysplasia (MED;EDM1,OMIM 132400;EDM2,OMIM 600204;EDM3,OMIM 600969;EDM4,OMIM 226900;EDM5,OMIM 607078;EDM6,OMIM 614135) is an autosomal dominant inherited disease of the skeletal system,characterized by mild short stature and early-onset degenerative joint disease,caused by heterogeneous genotypes involving more than six genes (COMP,COL9A1,COLgA2,COLgA3,MATN3,DTDST).[1] However,in approximately 10-20％ of all samples analyzed,a mutation cannot be identified in any of the six genes mentioned above,suggesting that the presence of other unidentified causative genes is also involved in the pathogenesis of MED.
- [1]LIU Feng-xia,LI Yan-xiang,ZHANG Xu-de,etc.EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia[J].2013,(6).
- [2]D.D. O'Rielly,Peter Kannu,L Ala Kokko,etc.Avascular Necrosis of the Femoral Head Due to a Novel C Propeptide Mutation in COL2A1[J].2011,155(7).
- [3]Bonafe L,Superti-Furga A,Unger S.Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.[J].2008,22(1).
- [4]WATSON, C M,texto em Inglês,pdf em Inglês,etc.SAMJ: South African Medical Journal[J].2015,105(7).
- [5]Mabuchi A,Manabe N,Haga N,etc.Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.[J].2003,112(1).
- [6]Buckingham KJ,Ng SB,Lee.Exome sequencing identifies the cause of a mendelian disorder.[J].2010,42(1).
- [7]Li F, Chan,Daniel C, Campbell,Tatiana V, Novoselova,etc.Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.[J].2015,6.