Norman–Roberts syndrome
| Norman–Roberts syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 257320 |
Lissencephaly 2, more commonly called Norman–Roberts syndrome, is a rare form of lissencephaly caused by a mutation in the reelin gene.[1] A small number of cases have been described. The syndrome was first reported by M. Norman and M. Roberts et al. in 1976.[2]
Lack of reelin prevents normal layering of the cerebral cortex and disrupts cognitive development. Patients have cerebellar hypoplasia and suffer from congenital lymphedema and hypotonia. The disorder is also associated with myopia, nystagmus and generalized seizures.
Norman–Roberts syndrome is one of two known disorders caused by a disruption of the reelin-signaling pathway. The other is VLDLR-associated cerebellar hypoplasia, which is caused by a mutation in the gene coding for one of the reelin receptors, VLDLR.
Disruption of the RELN gene in human patients is analogous to the malfunctioning RELN gene in the reeler mouse.
References
- ↑ Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA (2000). "Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations". Nat. Genet. 26 (1): 93–6. doi:10.1038/79246. PMID 10973257.
- ↑ Norman MG, Roberts M, Sirois J, Tremblay LJ (1976). "Lissencephaly". Can J Neurol Sci 3 (1): 39–46. PMID 175907.