LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

European Journal of Human Genetics

Volumn 18, Issue 7, 2010, Pages 761-767

  Désir, Julie ^a,b   Sznajer, Yves ^b,c   Depasse, Fanny ^b   Roulez, Françoise ^c   Schrooyen, Marc ^b   Meire, Françoise ^b,c,d   Abramowicz, Marc ^a,b  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Marfan; Megalocornea; Microspherophakia

Indexed keywords

LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 2; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ARM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; CASE REPORT; CHILD; CONSANGUINITY; ECTOPIA LENTIS; EXON SKIPPING; EYE DISEASE; FAMILY STUDY; FEMALE; FIBROBLAST; FOLLOW UP; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HIGH ARCHED PALATE; HOMOZYGOSITY; HUMAN; INTRAOCULAR PRESSURE; LENS LUXATION; MALE; MARFAN SYNDROME; MEGALOCORNEA; MYOPIA; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA ANALYSIS; SECONDARY GLAUCOMA; SPHEROPAKIA; TALL STATURE; VISUAL IMPAIRMENT;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; GENES, RECESSIVE; GLAUCOMA; HUMANS; INFANT; LATENT TGF-BETA BINDING PROTEINS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA, MESSENGER; SYNDROME;

EID: 77953809725     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.11     Document Type: Article

References (29)

1. 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.
2. Faivre L, Masurel-Paulet A, Collod-Beroud G et al: Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009; 123: 391-398.
3. Meire FM, Delleman WJ, Bleeker-Wagemakers EM: Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome). Ophthalmic Paediatr Genet 1991; 12: 1-9.
4. Meire FM, Van EJ, Hanssens M: Congenital Marfan syndrome with contractures. A clinicopathological report. Bull Soc Belge Ophtalmol 1992; 245: 91-97.
5. Ramirez F, Dietz HC: Fibrillin-rich microfibrils: structural determinants of morpho-genetic and homeostatic events. J Cell Physiol 2007; 213: 326-330.
6. Dietz HC, Cutting GR, Pyeritz RE et al: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-339.
7. Isogai Z, Ono RN, Ushiro S et al: Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 2003; 278: 2750-2757.
8. Gregory KE, Ono RN, Charbonneau NL et al: The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix. J Biol Chem 2005; 280: 27970-27980.
9. Neptune ER, Frischmeyer PA, Arking DE et al: Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003; 33: 407-411.
10. Habashi JP, Judge DP, Holm TM et al: Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 2006; 312: 117-121.
11. Massague J: The TGF-beta family of growth and differentiation factors. Cell 1987; 49: 437-438.
12. Robinson PN, Arteaga-Solis E, Baldock C et al: The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006; 43: 769-787.
13. Gleizes PE, Beavis RC, Mazzieri R, Shen B, Rifkin DB: Identification and characterization of an eight-cysteine repeat of the latent transforming growth factor-beta binding protein-1 that mediates bonding to the latent transforming growth factor-beta1. J Biol Chem 1996; 271: 29891-29896.
14. Saharinen J, Taipale J, Keski-Oja J: Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1. EMBO J 1996; 15: 245-253.
15. Saharinen J, Keski-Oja J: Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. Mol Biol Cell 2000; 11: 2691-2704.
16. Reinhardt DP, Gambee JE, Ono RN, Bachinger HP, Sakai LY: Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1. J Biol Chem 2000; 275: 2205-2210.
17. Hirani R, Hanssen E, Gibson MA: LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. Matrix Biol 2007; 26: 213-223.
18. Hirai M, Horiguchi M, Ohbayashi T, Kita T, Chien KR, Nakamura T: Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly. EMBO J 2007; 26: 3283-3295.
19. Ali M, McKibbin M, Booth A et al: Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009; 84: 664-671.
20. Narooie-Nejad M, Paylakhi SH, Shojaee S et al: Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. Hum Mol Genet 2009; 18: 3969-3977.
21. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory, 1989.
22. Woods CG, Valente EM, Bond J, Roberts E: A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and EXCLUDEAR. J Med Genet 2004; 41: e101.
23. Aerts S, Lambrechts D, Maity S et al: Gene prioritization through genomic data fusion. Nat Biotechnol 2006; 24: 537-544.
24. Roche O, Dureau P, Uteza Y, Dufier JL: Congenital megalocornea. J Fr Ophtalmol 2002; 25: 312-318.
25. Meire FM: Megalocornea. Clinical and genetic aspects. Doc Ophthalmol 1994; 87: 1-121.
26. Ahram D, Sato TS, Kohilan A et al: A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet 2009; 84: 274-278.
27. Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B: Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A 2004; 126A: 284-289.
28. Dagoneau N, Benoist-Lasselin C, Huber C et al: ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet 2004; 75: 801-806.
29. Shipley JM, Mecham RP, Maus E et al: Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development. Mol Cell Biol 2000; 20: 4879-4887.