Bakrania Ragge Syndrome

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Classification according to ICD-10
Q11.2 Microphthalmos
ICD-10 online (WHO version 2019)

The Bakrania-Ragge syndrome is a very rare congenital disease with the main characteristics anophthalmia , microphthalmia , dystrophy of the retina and other malformations and one of the syndromic Mikrophthalmien .

Synonyms are: MCOPS6; Microphthalmia, syndromic, type 6; english SOX2 anophthalmia syndrome

The name refers to the first authors of descriptions from 2005 and 2007 by the British doctors Nicola K. Ragge and Preeti Bakrania.

distribution

The frequency is given as 1 in 250,000 or less than 1 in 1,000,000, inheritance is autosomal dominant .

The syndrome is present in 10–15% of patients with bilateral anophthalmia.

root cause

The disease are mutations in BMP4 - gene in chromosome 14 Q22.2, which plays an essential role in the development of the eye.

Clinical manifestations

Clinical criteria are:

literature

  • P. Bakrania, M. Efthymiou, JC Klein, A. Salt, DJ Bunyan, A. Wyatt, CP Ponting, A. Martin, S. Williams, V. Lindley, J. Gilmore, M. Restori, AG Robson, MM Neveu , GE Holder, JR Collin, DO Robinson, P. Farndon, H. Johansen-Berg, D. Gerrelli, NK Ragge: Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. In: American Journal of Human Genetics . Vol. 82, No. 2, February 2008, pp. 304-319, doi: 10.1016 / j.ajhg.2007.09.023 , PMID 18252212 , PMC 2427285 (free full text).
  • S. Aijaz, BJ Clark, K. Williamson, V. van Heyningen, D. Morrison, D. Fitzpatrick, R. Collin, N. Ragge, A. Christoforou, A. Brown, I. Hanson: Absence of SIX6 mutations in microphthalmia , anophthalmia, and coloboma. In: Investigative ophthalmology & visual science. Vol. 45, No. 11, November 2004, pp. 3871-3876, doi: 10.1167 / iovs.04-0641 , PMID 15505031 .

Individual evidence

  1. ↑ a b c Bakrania-Ragge syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ NK Ragge, B. Lorenz, A. Schneider, K. Bushby, L. de Sanctis, U. de Sanctis, A. Salt, JR Collin, AJ Vivian, SL Free, P. Thompson, KA Williamson, SM Sisodiya, V van Heyningen, DR Fitzpatrick: SOX2 anophthalmia syndrome. In: American journal of medical genetics. Part A. Vol. 135, No. 1, May 2005, pp. 1-7, doi: 10.1002 / ajmg.a.30642 , PMID 15812812 .
  3. ↑ P. Bakrania, DO Robinson, DJ Bunyan, A. Salt, A. Martin, JA Crolla, A. Wyatt, A. Fielder, J. Ainsworth, A. Moore, S. Read, J. Uddin, D. Laws, D. Pascuel-Salcedo, C. Ayuso, L. Allen, JR Collin, NK Ragge: SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. In: The British journal of ophthalmology. Vol. 91, No. 11, November 2007, pp. 1471-1476, doi: 10.1136 / bjo.2007.117929 , PMID 17522144 , PMC 2095460 (free full text).
  4. ^ Genetics Home Reference
  5. ↑ Microphthalmia, syndromic 6.  In: Online Mendelian Inheritance in Man . (English)