多発性骨端異形成症

多発性骨端異形成症 (EDM) は、遺伝的にはそれぞれ別個の骨端の骨化が遅れる疾患である。本疾患の原因となる遺伝子変異が、COMP, DTDST, MATN3, COL9A1, COL9A2, および COL9A3 で確認されている。COL2A1の遺伝子変異は、近視と伝音性難聴を伴う多発性骨端異形成症の原因となる。

先天奇形

(EDM1) COMP [HSA:1311] [KO:K04659]
(EDM2) COL9A2 [HSA:1298] [KO:K08131]
(EDM3) COL9A3 [HSA:1299] [KO:K08131]
(EDM4) DTDST [HSA:1836] [KO:K14701]
(EDM5) MATN3 [HSA:4148] [KO:K19467]
(EDM6) COL9A1 [HSA:1297] [KO:K08131]
(EDMMD) COL2A1 [HSA:1280] [KO:K19719]

PMID:18328978

Unger S, Bonafe L, Superti-Furga A

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Best Pract Res Clin Rheumatol 22:19-32 (2008)
DOI:10.1016/j.berh.2007.11.009

PMID:12687890

Chapman KL, Briggs MD, Mortier GR

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.

Pediatr Pathol Mol Med 22:53-75 (2003)
DOI:10.1080/pdp.22.1.53.75

PMID:11891674

Unger S, Hecht JT

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

Am J Med Genet 106:244-50 (2001)
DOI:10.1002/ajmg.10234

PMID:11565064

Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Am J Hum Genet 69:969-80 (2001)
DOI:10.1086/324023

PMID:9800905

Ballo R, Beighton PH, Ramesar RS

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

Am J Med Genet 80:6-11 (1998)
DOI:10.1002/(SICI)1096-8628(19981102)80:1<6::AID-AJMG2>3.0.CO;2-0