Publications by authors named "B Pruniski"
Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de novo synthesis pathway - KYNU, HAAO, and NADSYN1 - have been identified in humans with congenital malformations defined as congenital NAD deficiency disorder (CNDD). Here, we identified 13 further individuals with biallelic NADSYN1 variants predicted to be damaging, and phenotypes ranging from multiple severe malformations to the complete absence of malformation.
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- The ITSN1 gene is crucial for brain development, with recent studies showing that de novo variants in this gene are linked to neurodevelopmental disorders, particularly autism and intellectual disability.
- This study utilized trio exome sequencing on a patient with autism and other cognitive difficulties, along with data from other affected patients globally, to explore the genetic relationships and variants within the ITSN1 gene.
- The findings revealed ten new patients with specific ITSN1 variants, indicating a strong connection to disorders such as autism and intellectual disability, and suggested that different types of mutations in ITSN1 affect its function and are more common in certain regions of the gene.
Here, we report on six unrelated individuals, all presenting with early-onset global developmental delay, associated with impaired motor, speech and cognitive development, partly with developmental epileptic encephalopathy and physical dysmorphisms. All individuals carry heterozygous missense variants of KCND2, which encodes the voltage-gated potassium (Kv) channel α-subunit Kv4.2.
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- Truncating variants in exons 33 and 34 of the SRCAP gene are linked to Floating-Harbor syndrome, a neurodevelopmental disorder with symptoms like short stature and speech delay.
- In a study of 33 individuals with different clinical features than FLHS, most had de novo SRCAP variants, revealing shared issues like developmental delays and behavioral problems.
- The research found distinct DNA methylation signatures for these individuals compared to FLHS, leading to the classification of their condition as "non-FLHS SRCAP-related NDD," emphasizing the relationship between variant location, DNA methylation, and clinical symptoms.