Das Knobloch-Syndrome 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen im Kollagen XVIII-Gen COL18A1 hervorgerufen wird. Zum klinischen Bild gehören vor allem Augenveränderungen wie hochgradige Myopie, Katarakt, Linsendislokation, vitroretinale Degeneration und Retinablösung. Auch Defekte am Hinterkopf gehören zu diesem Syndrom.
1. |
Menzel O et al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. |
2. |
Aldahmesh MA et al. (2011) Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. |
3. |
Kliemann SE et al. (2003) Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. |
4. |
Sniderman LC et al. (2000) Knobloch syndrome involving midline scalp defect of the frontal region. |
5. |
Wilson C et al. (1998) Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. |
6. |
Sertié AL et al. (1996) A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. |
7. |
Seaver LH et al. (1993) Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. |
8. |
Passos-Bueno MR et al. (1994) Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. |
9. |
Cohen MM et al. (1982) Syndromes with cephaloceles. |
10. |
Pagon RA et al. (1978) Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition. |
12. |
Czeizel AE et al. (1992) The second report of Knobloch syndrome. |
13. |
Aldahmesh MA et al. (2013) No evidence for locus heterogeneity in Knobloch syndrome. |
14. |
Joyce S et al. (2010) Locus heterogeneity and Knobloch syndrome. |
15. |
Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. |
16. |
Paisán-Ruiz C et al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder. |
17. |
Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. |
18. |
Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. |
19. |
Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. |
20. |
OMIM.ORG article Omim 267750 |