Intellectual disability update Jan 2018

Gene: MAOB

Red List (low evidence)

Comment on publications: added publications to support the current evidence for ID and this gene

Created: 5 Mar 2018, 12:46 p.m.

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204.
Whibley et al. (2010) PMID: 20485326 concluded that both MAO genes (MAOA, MAOB) are critical for early brain development and function, since both of the patients in the study had severe to profound mental retardation appearing shortly after birth. This was in contrast to the report of Lenders et al. (1996) PMID: 8613523 who found that loss of only MAOB resulted in no intellectual impairment, and patients with loss of only MAOA, who have milder mental retardation. Recently Jia B et al, (2017) PMID: 29321361 noted that although previous studies had found that contiguous deletion of NDP and its neighbouring genes, MAOA, MOAB and EFHC2, lead to syndromic clinical features such as microcephaly, intellectual disability, and epilepsy, they reported a novel contiguous microdeletion of the NDP region containing the MAOB and EFHC2 genes, caused eye defects but no cognitive disability.
Currently there is no evidence to support the association between variants of this gene and an observed intellectual disability phenotype.This gene is also not currently a DD gene in Gene2Phenotype.

Created: 5 Mar 2018, 12:34 p.m.