Ataxia - paediatric

Gene: DHDDS

Green List (high evidence)

PMID: 34382076, 25 patients from 24 unrelated families.
- Most of the variants were validated as de novo events, while parental mosaicism was demonstrated in one family.
- Patients presented during infancy or childhood with a variable association of neurodevelopmental disorder, generalized epilepsy, action myoclonus/cortical tremor, and ataxia. Later in the disease course they experienced a slow neurological decline with the emergence of hyperkinetic and/or hypokinetic movement disorder, cognitive deterioration, and psychiatric disturbances.
- Serum glycoprotein hypoglycosylation was not detected, the urinary dolichol D18/D19 ratio was normal.

Created: 2 Feb 2022, 12:11 a.m. | Last Modified: 2 Feb 2022, 12:11 a.m.

Panel Version: 0.10850

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• PMID: 34382076

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia - at least 11 unrelated cases of ataxia reported in literature.
Sources: Literature

Created: 3 Dec 2021, 8:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental delay and seizures with or without movement abnormalities, OMIM:617836

Publications

• 29100083
• 33798445
• 34182312
• 34382076