Publications by authors named "K Siquier-Pernet"
Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.
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- Cerebellar atrophy and hypoplasia, often detected through MRI in children with ataxia and developmental issues, are linked to leukodystrophies, which can affect brain myelin.
- A recent study highlights two cases involving variants in the LSM7 gene: one child with a confirmed diagnosis and another with a presumed variant, suggesting LSM7's critical role in these conditions.
- Our findings expand this understanding by presenting a new patient with similar symptoms and genetic variants in LSM7, reinforcing its association with neurodevelopmental disorders involving leukodystrophy and cerebellar atrophy.
Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020320.3:c.
View Article and Find Full Text PDFBackground: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman-El-Hattab syndrome and provide functional characterization of this novel histone modification disorder in a multi-omics approach.
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- Pontocerebellar hypoplasias (PCHs) are genetic disorders that cause underdevelopment of the cerebellum and brainstem, leading to severe motor and cognitive issues in affected infants.
- Four families with children exhibiting significant brainstem dysfunction were studied, uncovering different mutations in the PRDM13 gene linked to these developmental challenges and marked brain abnormalities observed through MRI and pathology.
- PRDM13, previously unassociated with hindbrain development, is crucial for the specification of certain neurons, and its disruption in animal models shows a direct link to the reduction of essential brain structures, indicating mutations in this gene could be responsible for many cases of PCH.