Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

American Journal of Medical Genetics

Volumn 92, Issue 1, 2000, Pages 7-12

  Belleh, Susan ^a   Zhou, Guimei ^a   Wang, Mei ^a   Der Kaloustian, Vazken M ^c   Pagon, Roberta A ^d   Godfrey, Maurice ^a,b  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Beal's syndrome; Congenital contractural arachnodactyly; Fibrillin 2; Mutation; Polymorphism

Indexed keywords

COMPLEMENTARY DNA; DNA; RNA;

ARACHNODACTYLY; ARTICLE; CASE REPORT; CHILD; CONGENITAL MALFORMATION; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SUBSTITUTION; CHILD; CONTRACTURE; DNA MUTATIONAL ANALYSIS; FEMALE; HETERODUPLEX ANALYSIS; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; POINT MUTATION;

EID: 0034194462     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000501)92:1<7::AID-AJMG2>3.0.CO;2-8     Document Type: Article

References (28)

1. Babcock D, Gasner C, Francke U, Maslen C. 1998. A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Hum Genet 103: 22-28.
2. Beals RK, Hecht F. 1971. Congenital contractural arachnodactyly, a heritable disorder of connective tissue. J Bone Joint Surg 53-A:987-993.
3. Bjerkreim I, Skogland LB, Trygstad O. 1976. Congenital contractural arachnodactyly. Acta Orthop Scand 47:250-253.
4. Chomczynski P, Sacchi S. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Analyt Biochem 162:156-159.
5. Dietz HC, Pyeritz RE. 1995. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Molec Genet 4:1799-1809.
6. Epstein CJ, Graham CB, Hodgkin WE, Hecht F, Motulsky AG, 1968. Hereditary dysplasia of bone with kyphoscliosis, contractures, and abnormally shaped ears. J Pediatr 73:379-386.
7. Francke U, Berg MA, Tynan K, Brenn T, Liu W, Aoyama T, Gasner C, Miller DC, Furthmayr H. 1995. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Am J Hum Genet 56:1287-1296.
8. Hecht F, Beals RK. 1972. "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics 49: 574-579.
9. Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. 1994. Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nature Genet 6:64-69.
10. Karttunen L, Lonnqvist L, Godfrey M, Peltonen L, Syvanen AC. 1996. An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts. Genome Res 6: 392-403.
11. Lee B, Godfrey M, Vitale E, Hori H, Mattei M, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. 1991. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352:330-334.
12. Lonnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. 1994. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics 19:573-576.
13. Lowry RB, Guichon VC. 1972. Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome. Can Med Assoc J 107:531-533.
14. Mariencheck MC, Davis EC, Zhang H, Ramirez F, Rosenbloom J, Gibson MA, Parks WC, Mecham RP. 1995. Fibrillin-1 and fibrillin-2 show temporal and tissue-specific expression in developing elastic tissues. Connect Tiss Res 31:87-97.
15. Maslen C, Babcock D, Raghunath M, Steinmann B. 1997. A rare branchpoint mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly. Am J Hum Genet 60:1389-1398.
16. Milewicz DM, Duvic M. 1994. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 54:447-453.
17. Milewicz DM, Grossfield J, Cao S, Kielty C, Covitz W, Jewett T. 1995. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. J Clin Invest 95:2373-2378.
18. Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM. 1998. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Am J Med Genet 78:350-355.
19. Pereira L, D'Alessio M, Ramirez F, Lynch JR, Sykes B, Pangilinan T, Bonadio J. 1993. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Molec Genet 2:961-968.
20. Putnam EA, Park E, Aalfs CM, Hennekam RCM, Milewicz DM. 1997. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet 60:818-827.
21. Putnam EA, Zhang H, Ramirez F, Milewicz DM. 1995. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genet 11:456-458.
22. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: a laboratory manual. Cold Spring Harbor: Cold Spring Harbor Laboratory.
23. Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, Godfrey M, Devereux RB, Hewett D, Steinmann B, Viljoen DL, Sykes B, Kilpatrick M, Ramirez F, the International Marfan Syndrome Collaborative Study. 1992. Linkage analysis demonstrates that Marfan syndrome, dominant ectopia lentis, and congenital contractural arachnodactyly are linked to the fibrillin genes on chromosmes 15 and 5. N Engl J Med 326:905-909.
24. Wang M, Clericuzio CL, Godfrey M. 1996. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by mis-splicing of exon 34 of fibrillin-2 (FBN2). Am J Hum Genet 59:1027-1034.
25. Wang M, Price CE, Han J, Cisler J, Imaizumi K, Van Thienen MN, DePaepe A, Godfrey M. 1995. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Molec Genet 4: 607-613.
26. Wang M, Wang J, Imaizumi K, Jones MC, Lamberti JJ. Burton BK, Godfrey M. 1997. Three novel fibrillin mutations in exons 25 and 27: classical versus neonatal Marfan syndrome. Hum Mutat 9:359-362.
27. Zhang H, Apfelroth SD, Hu W, Davis EC, Sanguineti C, Bonadio J, Mecham RP, Ramirez F. 1994. Structure and expression of fibrillin-2 a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol 124:855-863.
28. Zhang H, Hu W, Ramirez F. 1995. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 129:1165-1176.