| H01902 | |
| H number | H01902 |
| Name | Brittle cornea syndrome |
| Description | Brittle cornea syndrome (BCS) is a rare autosomal recessive generalized connective tissue disorder. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to blindness. Keratoconus or keratoglobus, high myopia, blue sclerae, hyperelasticity of the skin, and hypermobility of the small joints are additional features of BCS. Mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a common pathway regulating extracellular matrix genes, particularly fibrillar collagens. |
| Category | Congenital malformation |
| Network | - |
| Gene | (BCS1) ZNF469 [HSA:84627] (BCS2) PRDM5 [HSA:11107] [KO:K22534] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Formerly, BCS1 was called Ehlers-Danlos syndrome type VIB. See also H00802 Ehlers-Danlos syndrome (EDS). |
| Other DBs | ICD-11: LD28.1Y ICD-10: Q79.6 MeSH: C536192 OMIM: 229200 614170 |
| Reference | PMID:23680354 AUTHORS Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Burer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C TITLE ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. JOURNAL Mol Genet Metab 109:289-95 (2013) DOI:10.1016/j.ymgme.2013.04.014 PMID:26560304 AUTHORS Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC TITLE Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. JOURNAL Orphanet J Rare Dis 10:145 (2015) DOI:10.1186/s13023-015-0360-4 PMID:18452888 (ZNF469) AUTHORS Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E TITLE Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. JOURNAL Am J Hum Genet 82:1217-22 (2008) DOI:10.1016/j.ajhg.2008.04.001 PMID:21664999 (PRDM5) AUTHORS Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM TITLE Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. JOURNAL Am J Hum Genet 88:767-777 (2011) DOI:10.1016/j.ajhg.2011.05.007 |