Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder
Abstract Mutations in the DHDDS gene (MIM: 617836), encoding a subunit of dehydrodolichyl diphosphate synthase complex, have been recently implicated in very rare neurodevelopmental diseases. In total, five individuals carrying two de novo mutations in DHDDS have been reported so far, but genotype–p...
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Published in | Journal of pediatric genetics (Birmingham, Ala.) Vol. 10; no. 3; pp. 236 - 238 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Rüdigerstraße 14, 70469 Stuttgart, Germany
Georg Thieme Verlag KG
01.09.2021
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Subjects | |
Online Access | Get full text |
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Summary: | Abstract
Mutations in the
DHDDS
gene (MIM: 617836), encoding a subunit of dehydrodolichyl diphosphate synthase complex, have been recently implicated in very rare neurodevelopmental diseases. In total, five individuals carrying two
de novo
mutations in
DHDDS
have been reported so far, but genotype–phenotype correlations remain elusive. We reported a boy with a
de novo
mutation in
DHDDS
(NM_205861.3: c.G632A; p.Arg211Gln) featuring a complex neurological phenotype, including mild intellectual disability, impaired speech, complex hyperkinetic movements, and refractory epilepsy. We defined the electroclinical and movement disorder phenotype associated with the monoallelic form of the
DHDDS
-related neurodevelopmental disease and possible underlying dominant-negative mechanisms. |
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ISSN: | 2146-4596 2146-460X |
DOI: | 10.1055/s-0040-1713159 |