Publications by authors named "A Reymond"
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.
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- * The study reviews the wide range of effects (pleiotropy) caused by these rearrangements and highlights similarities in findings from clinical studies and larger population studies, showing they affect multiple bodily systems, not just the brain and body measurements.
- * Understanding the varied symptoms these genomic changes can cause is essential for accurate diagnoses and tailored treatments, and further research is needed to uncover the factors behind these differences and the biological pathways that explain them.
Whereas 16p11.2 BP4-5 copy-number variants (CNVs) represent one of the most pleiotropic etiologies of genomic syndromes in both clinical and population cohorts, the mechanisms leading to such pleiotropy remain understudied. Identifying 73 deletion and 89 duplication carrier individuals among unrelated White British UK Biobank participants, we performed a phenome-wide association study (PheWAS) between the region's copy number and 117 complex traits and diseases, mimicking four dosage models.
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- - The study examines how secondary genetic variants can influence the clinical features of individuals with primary disease-causing variants, suggesting that these modifiers play a significant role in disease expression.
- - Specifically focusing on the 16p12.1 deletion, researchers identified various rare and common variants that predisposed individuals to specific developmental issues, such as neurological defects and microcephaly.
- - By analyzing data from different cohorts, the findings indicate that the effects of primary and secondary variants on phenotype vary depending on the specific primary variant involved, highlighting the need for personalized approaches in treatment.
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- The KINSSHIP syndrome, caused by de novo variants in the AFF3 gene, leads to intellectual disability, mesomelic dysplasia, and horseshoe kidneys, and is characterized by a dominant-negative effect from increased levels of AFF3.
- Researchers screened intellectual disability cohorts and used animal models to explore additional inheritance patterns and found a range of variants in AFF3, including a de novo duplication linked to a severe phenotype and variants that caused milder symptoms.
- Analysis of zebrafish models confirmed the pathogenic effects of specific AFF3 variations, showing that some mutations disrupted normal function while others led to more severe conditions in individuals with homozygous or compound heterozygous variants.