A LARGE FAMILY WITH FEATURES OF PSEUDOACHONDROPLASIA AND MULTIPLE EPIPHYSEAL DYSPLASIA - EXCLUSION OF 7 CANDIDATE GENE LOCI THAT ENCODE PROTEINS OF THE CARTILAGE EXTRACELLULAR-MATRIX

被引：37

作者：

RIMOIN, DL

RASMUSSEN, IM

BRIGGS, MD

ROUGHLEY, PJ

GRUBER, HE

WARMAN, ML

OLSEN, BR

HSIA, YE

YUEN, J

REINKER, K

GARBER, AP

GROVER, J

LACHMAN, RS

COHN, DH

机构：

[1] CEDARS SINAI MED CTR, STEVEN SPIELBERG PEDIAT RES CTR, AHMANSON DEPT PEDIAT, LOS ANGELES, CA 90048 USA

[2] UNIV CALIF LOS ANGELES, SCH MED, DEPT PEDIAT, LOS ANGELES, CA 90024 USA

[3] UNIV CALIF LOS ANGELES, SCH MED, DEPT RADIOL, LOS ANGELES, CA 90024 USA

[4] UNIV CALIF LOS ANGELES, SCH MED, DEPT ORAL BIOL, LOS ANGELES, CA 90024 USA

[5] SHRINERS HOSP CRIPPLED CHILDREN, GENET UNIT, MONTREAL H3G 1A6, PQ, CANADA

[6] HARVARD UNIV, SCH MED, DEPT ANAT & CELLULAR BIOL, BOSTON, MA 02115 USA

[7] UNIV HAWAII, KAPIOLANI MED CTR, HONOLULU, HI 96826 USA

[8] SHRINERS HOSP CRIPPLED CHILDREN, DEPT ORTHOPED, HONOLULU, HI 96826 USA

来源：

HUMAN GENETICS | 1994年 / 93卷 / 03期

关键词：

D O I：

10.1007/BF00212015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.

引用

页码：236 / 242

页数：7

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