Intellectual disability update Jan 2018

Gene: RUBCN

Red List (low evidence)

Little evidence currently available to suggest a link between variants in this gene and intellectual disability. One paper describes three sisters from a consanguineous family with spinocerebellar ataxia (autosomal recessive), two of whom went onto develop "moderate mental retardation" after developing epilepsy at 7 months old (epileptic seizures from 7 months - 3 years of age).
Unsure as to the origin of the intellectual disability - from the variant or from the epilepsy.

Created: 22 Feb 2018, 2:26 p.m.

Publications

• 20826435