The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus

Genetic Testing

Volumn 12, Issue 2, 2008, Pages 325-330

  Li, Dan ^a,b   Yu, Jie ^c,d   Gu, Feng ^a   Pang, Xiuqin ^c   Ma, Xixin ^e   Li, Rong ^e   Liu, Ningpu ^c,d   Ma, Xu ^a,b,f  

^a NATIONAL RESEARCH INSTITUTE FOR FAMILY PLANNING   (China)

^b GRADUATE SCHOOL OF PEKING UNION MEDICAL COLLEGE   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

^d CAPITAL MEDICAL UNIVERSITY   (China)

^e Zhengzhou Er Qi District Hospital   (China)

^f WHO Collaborative Center for Research in Human Reproduction   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FIBRILLIN 1;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR SYSTEM EXAMINATION; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ECTOPIA LENTIS; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; MALE; MARFAN SYNDROME; MARFANOID HABITUS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOLOGY; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; PROTEIN MOTIF; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHINA; DNA MUTATIONAL ANALYSIS; ECTOPIA LENTIS; EXONS; EYE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAND; HUMANS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE;

EID: 45549094416     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2008.0002     Document Type: Article

References (21)

1. Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B (2004) Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A 126:284-289.
2. Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (2005) Molecular genetics of Marfan syndrome. Curr Opin Cardiol 20:194-200.
3. Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, de Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C (2003) Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 22:199-208.
4. de Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE (1996) Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 62:417-426.
5. Dietz H, Francke U, Furthmayr H, Francomano C, de Paepe A, Devereux R, Ramirez F, Pyeritz R (1995) The question of heterogeneity in Marfan syndrome. Nat Genet 9:228-231.
6. Downing AK, Knott V, Werner JM, Cardy CM, Campbell ID, Handford PA (1996) Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders. Cell 85:597-605.
7. Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC (1994) Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet 53:65-71.
8. Gelb BD (2006) Marfan's syndrome and related disorders-more tightly connected than we thought. N Engl J Med 355:841-844.
9. Gray JR, Davies SJ (1996) Marfan syndrome. J Med Genet 33:403-408.
10. Jin C, Yao K, Jiang J, Tang X, Shentu X, Wu R (2007) Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. Mol Vis 13:1280-1284.
11. Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Turkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN (2002) TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Hum Mutat 20:197-208.
12. Lo IF, Wong RM, Lam FW, Tong TM, Lam ST (2001) Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. Chin Med J (Engl) 114:473-476.
13. Loeys B, Nuytinck L, van Acker P, Walraedt S, Bonduelle M, Sermon K, Hamel B, Sanchez A, Messiaen L, de Paepe A (2002) Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS). Prenat Diagn 22:22-28.
14. Mellody KT, Freeman LJ, Baldock C, Jowitt TA, Siegler V, Raynal BD, Cain SA, Wess TJ, Shuttleworth CA, Kielty CM (2006) Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. J Biol Chem 281:31854-31862.
15. Pyeritz RE (2000) The Marfan syndrome. Annu Rev Med 51:481-510.
16. Qin Y, Yan J, Simpson JL, Gu HF, Wang LC, Chen ZJ (2007) Novel non-synonymous mutation in the transforming growth factor beta binding protein-like (TB) domain of the fibrillin-1 (FBN1) gene in a Han Chinese family with Marfan syndrome (MFS). Neuro Endocrinol Lett 28:629-632.
17. Reinhardt DP, Mechling DE, Boswell BA, Keene DR, Sakai LY, Bachinger HP (1997a) Calcium determines the shape of fibrillin. J Biol Chem 272:7368-7373.
18. Reinhardt DP, Ono RN, Sakai LY (1997b) Calcium stabilizes fibrillin-1 against proteolytic degradation. J Biol Chem 272:1231-1236.
19. Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U (1999) Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 65:1007-1020.
20. Spits C, de Rycke M, Verpoest W, Lissens W, van Steirteghem A, Liebaers I, Sermon K (2006) Preimplantation genetic diagnosis for Marfan syndrome. Fertil Steril 86:310-320.
21. Summers KM, West JA, Peterson MM, Stark D, McGill JJ, West MJ (2006) Challenges in the diagnosis of Marfan syndrome. Med J Aust 184:627-631.