Norman–Roberts syndrome

Lissencephaly 2, more commonly called Norman–Roberts syndrome, is a rare form of microlissencephaly caused by a mutation in the RELN gene.[1] A small number of cases have been described. The syndrome was first reported by Margaret Grace Norman and M. Roberts et al. in 1976.[2]

Not to be confused with Roberts syndrome.
Norman–Roberts syndrome
Other namesMicrolissencephaly type A
This condition is inherited in an autosomal recessive manner
SpecialtyNeurology

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
  1. 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". Nature Genetics. 26 (1): 93–96. doi:10.1038/79246. PMID 10973257.
  2. Norman MG, Roberts M, Sirois J, Tremblay LJ (1976). "Lissencephaly". Canadian Journal of Neurological Sciences. 3 (1): 39–46. doi:10.1017/S0317167100025981. PMID 175907.
Classification
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