PuSH - Publication Server of Helmholtz Zentrum München: <em>ASXL3</em> de novo variant-related neurodevelopmental disorder presenting as dystonic cerebral palsy.

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Švantnerová, J.* ; Minár, M.* ; Radová, S.* ; Kolníková, M.* ; Vlkovič, P.* ; Zech, M.

ASXL3 de novo variant-related neurodevelopmental disorder presenting as dystonic cerebral palsy.

Neuropediatrics 53, 361-365 (2022)

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ASXL3 loss-of-function variants represent a well-established cause of Bainbridge-Ropers syndrome, a syndromic neurodevelopmental disorder with intellectual and motor disabilities. Although a recent large-scale genomics-based study has suggested an association between ASXL3 variation and cerebral palsy, there have been no detailed case descriptions. We report, here, a female individual with a de novo pathogenic c.1210C > T, p.Gln404* nonsense variant in ASXL3, identified within the frame of an ongoing research project applying trio whole-exome sequencing to the diagnosis of dystonic cerebral palsy. The patient presented with a mixture of infantile-onset limb/trunk dystonic postures and secondarily evolving distal spastic contractures, in addition to more typical features of ASXL3-related diseases such as severe feeding issues, intellectual disability, speech impairment, and facial dysmorphic abnormalities. Our case study confirms a role for ASXL3 pathogenic variants in the etiology of cerebral-palsy phenotypes and indicates that dystonic features can be part of the clinical spectrum in Bainbridge-Ropers syndrome. ASXL3 should be added to target-gene lists used for molecular evaluation of cerebral palsy.

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