Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2

American Journal of Human Genetics

Volumn 59, Issue 5, 1996, Pages 1027-1034

  Wang, Mei ^a   Clericuzio, Carol L ^c   Godfrey, Maurice ^a,b  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ARACHNODACTYLY; ARTICLE; CASE REPORT; EXON; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HUMAN CELL; JOINT CONTRACTURE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; CONNECTIVE TISSUE DISEASES; CONTRACTURE; EXONS; FEMALE; FIBROBLASTS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; MALE; MICROFILAMENT PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY;

EID: 0029908699     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Aoyama T, Tynan K, Dietz HC, Francke U, Furthmayr H (1993) Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet 2:2135-2140
2. Bashir MM, Indik Z, Yeh H, Ornstein-Goldstein N, Rosenbloom JC, Abrams W, Fazio M, et al (1989) Characterization of the complete human elastin gene. J Biol Chem 264:8887-8891
3. Beals RK, Hecht F (1971) Congenital contractural arachnodactyly, a heritable disorder of connective tissue. J Bone Joint Surg 53-A:987-993
4. Brown Augsburger P, Broekelmann T, Mecham L, Mercer R, Gibson MA, Cleary EG, Abrams WR, et al (1994) Microfibril-associated glycoprotein binds to the carboxyl-terminal domain of tropoelastin and is a substrate for transglutaminase. J Biol Chem 269:28443-28449
5. Zhang H, Hu W, Ramirez F (1995) Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 129:1165-1176