Intellectual disability update Jan 2018

Gene: MAGED1

Red List (low evidence)

Comment on publications: Candidate intellectual disability gene suggested by Grozeva et al, (2015) PMID: 26350204 and recent paper on large deletion including MAGD1 giving a ID phenotype Grau et al., (2017) PMID: 28414775

Created: 5 Mar 2018, noon

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204. Recently Grau et al., (2017) PMID: 28414775 identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22.
The results suggested that deletions of an ~430 kb region on chromosome Xp11.22 that encompass CENPVL1, CENPVL2, GSPT2 and MAGED1 caused a distinct X-linked syndrome characterized by intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly. Changes in MAGED1 have not been associated with intellectual disability in humans, but loss of MAGED1 function is associated with neurocognitive and neurobehavioral phenotypes in mice PMID: 24700102, 22865874. However there is currently not enough evidence to support the association between specific variants of this MAGED1 and an observed intellectual disability phenotype for this gene to be rated Amber or Green
This gene is also not currently a DD gene in Gene2Phenotype.

Created: 5 Mar 2018, 11:42 a.m.