The revised ghent nosology; reclassifying isolated ectopia lentis

Clinical Genetics

Volumn 87, Issue 3, 2015, Pages 284-287

  Chandra, A ^a,b,c   Patel, D ^a   Aragon Martin, J A ^d   Pinard, A ^e,f   Collod Beroud G ^e,f   Comeglio, P ^d   Boileau, C ^g,h   Faivre, L ^i,j   Charteris, D ^a,b   Child, A H ^d   Arno, G ^b  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e AIX MARSEILLE UNIVERSITY   (France)

^f INSERM   (France)

^g BICHAT HOSPITAL   (France)

^h UNIVERSITÉ PARIS DESCARTES   (France)

ⁱ UNIVERSITÉ DE BOURGOGNE   (France)

^j Medical University of Dijon   (France)

more..

Author keywords

Ectopia lentis; FBN1; Isolated ectopia lentis; Marfan syndrome; Mutation

Indexed keywords

FIBRILLIN 1; ACTIN BINDING PROTEIN; FIBRILLIN;

AORTA DISSECTION; ARTICLE; CLINICAL ASSESSMENT; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ECTOPIA LENTIS; FAMILY ASSESSMENT; FAMILY HISTORY; GENE MUTATION; GENETIC ASSOCIATION; GHENT NOSOLOGY; HUMAN; MARFAN SYNDROME; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; GENETICS; GENOTYPE; META ANALYSIS; MUTATION; PHENOTYPE;

ECTOPIA LENTIS; GENOTYPE; HUMANS; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE;

EID: 84922723310     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12358     Document Type: Article

References (12)

1. Greene VB, Stoetzel C, Pelletier V et al. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. Ophthalmic Genet 2010: 31: 47-51.
2. Beighton P, de Paepe A, Danks D et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 1988: 29: 581-594.
3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996: 62: 417-426.
4. Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010: 47: 476-485.
5. Collod-Beroud G, Le Bourdelles S, Ades L et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 2003: 22: 199-208.
6. Faivre L, Collod-Beroud G, Callewaert B et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A 2009: 149A: 854-860.
7. Faivre L, Collod-Beroud G, Ades L et al. The new Ghent criteria for Marfan syndrome: what do they change? Clin Genet 2012: 81: 433-442.
8. Li H, Qu W, Meng B et al. Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis. Mol Vis 2012: 18: 504-511.
9. Yang G, Chu M, Zhai X, Zhao J. A novel FBN1 mutation in a Chinese family with isolated ectopia lentis. Mol Vis 2012: 18: 945-950.
10. Micheal S, Khan MI, Akhtar F et al. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Mol Vis 2012: 18: 1918-1926.
11. Aragon-Martin JA, Ahnood D, Charteris DG et al. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Hum Mutat 2010: 31: E1622-E1631.
12. Chandra A, Aragon-Martin JA, Hughes K et al. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci 2012: 53: 4889-4896.