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. 2018 Oct 24;5(12):1617-1621.
doi: 10.1002/acn3.677. eCollection 2018 Dec.

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

Reem A Alkhater  1   2 , Stephen W Scherer  1   3   4   5 , Berge A Minassian  1   6 , Susan Walker  1   3
Affiliations

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

Reem A Alkhater et al. Ann Clin Transl Neurol. .

Abstract

We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of PI4K2A that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings. PI4K2A is highly expressed in the brain and a mouse model displays a neurological phenotype, implicating PI4K2A as a new disease gene for a neurological disorder.

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Figures

Figure 1
Figure 1
Pedigree of the family showing genotypes. “p.S22*” indicates the PI4K2A variant in isoform NM_018425 and “+” indicates no variant. Black shapes indicate affected individuals and unaffected family members are shown by white shapes.
See this image and copyright information in PMC

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