Article
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
Human mutation - 1 Jan 2014
Geetha Thenral S, Michealraj Kulandaimanuvel Antony, Kabra Madhulika, Kaur Gurjit, Juyal Ramesh C, Thelma B K
Abstract excerpt
We report a novel missense mutation (c.1040G>A, p.Arg347Gln) in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred. The mutation was observed in all affected and obligate carriers but not in any unaffected males of the family or in population controls (n = 200). When transiently expressed in HEK293T cell line, the mutation was found to abolish the...
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