Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population

American Journal of Medical Genetics, Part A

Volumn 140, Issue 12, 2006, Pages 1280-1284

  Itoh, Taichi ^a   Shirahama, Shuya ^a   Nakashima, Eiji ^b   Maeda, Koichi ^b   Haga, Nobuhiko ^c   Kitoh, Hiroshi ^d   Kosaki, Rika ^e   Ohashi, Hirofumi ^e   Nishimura, Gen ^f   Ikegawa, Shiro ^b  

^a SRL INC   (Japan)

^b RIKEN   (Japan)

^c SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^d NAGOYA UNIVERSITY   (Japan)

^e SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^f TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

COMP; DTDST; Genetic diagnosis; MATN3; Multiple epiphyseal dysplasia (MED); Mutation; Type IX collagen gene

Indexed keywords

CALMODULIN; COLLAGEN TYPE 9; VON WILLEBRAND FACTOR;

ALGORITHM; ARTICLE; BONE DYSPLASIA; CLINICAL ARTICLE; COL9A1 GENE; COL9A2 GENE; COL9A3 GENE; COMP GENE; DTDST GENE; EXON; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INTRON; JAPAN; MATN3 GENE; MED GENE; MULTIPLE EPIPHYSEAL DYSPLASIA; PREVALENCE; PRIORITY JOURNAL; WESTERN BLOTTING;

BASE SEQUENCE; COLLAGEN TYPE IX; EPIDEMIOLOGY, MOLECULAR; EXONS; EXTRACELLULAR MATRIX PROTEINS; GENETIC SCREENING; GLYCOPROTEINS; HUMANS; INTRONS; JAPAN; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREVALENCE; PROTEIN STRUCTURE, TERTIARY; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; TAQ POLYMERASE;

EID: 33744797078     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31292     Document Type: Article

References (14)

1. Briggs MD, Chapman KL. 2002. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 19:465-478.
2. Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S. 2001. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. J Hum Genet 46:538-543.
3. Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y. 1998. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 103:633-638.
4. Jackson GC, Barker FS, Jakkula E, Czarny-Ratajczak M, Makitie O, Cole WG, Wright MJ, Smithson SF, Suri M, Rogala P, Mortier GR, Baldock C, Wallace A, Elles R, Ala-Kokko L, Briggs MD. 2004. Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet 41:52-59.
5. Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. 2003. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: Clinical and pathogenetic overlap with collagen IX mutations. J Med Genet 40:942-948.
6. Jakkula E, Makitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. 2005. Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. Eur J Hum Genet 13:292-301.
7. Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S. 2001. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. Am J Med Genet 104:135-139.
8. Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S. 2003. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet 112:84-90.
9. Mabuchi A, Haga N, Maeda K, Nakashima E, Manabe N, Hiraoka H, Kitoh H, Kosaki R, Nishimura G, Ohashi H, Ikegawa S. 2004a. Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat 24:439-440.
10. Mabuchi A, Momohara S, Ohashi H, Takatori Y, Haga N, Nishimura G, Ikegawa S. 2004b. Circulating COMP is decreased in psedoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations. Am J Med Genet Part A 129A:35-38.
11. Nakashima E, Ikegawa S, Ohashi H, Kimizuka M, Nishimura G. 2005a. Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation. Am J Med Genet Part A 133A:106-107.
12. Nakashima E, Kitoh H, Maeda K, Haga N, Kosaki R, Mabuchi A, Nishimura G, Ohashi H, Ikegawa S. 2005b. Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. Am J Med Genet Part A 132A:181-184.
13. Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. 1999. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36:621-624.
14. Unger S, Hecht JT. 2001. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments. Am J Med Genet 106:244-250.