Publications by authors named "S Garcia-Minaur"
8q21.11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have previously been associated by us with a syndromic form of intellectual disability, hypotonia, decreased balance and hearing loss. Here, we report on 57 individuals, 52 probands and 5 affected family members, with protein truncating variants (n=36), (micro)deletions (n=20) or an inversion (n=1) affecting with variable developmental delay and intellectual disability, distinctive facial characteristics, morphological abnormalities of the central nervous system, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior segment dysgenesis.
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- Meningomyelocele is a serious neural tube defect and the most common structural birth defect affecting the central nervous system.
- The Spina Bifida Sequencing Consortium found that deletions on chromosome 22q11.2 increase the risk of meningomyelocele by 23 times compared to the general population.
- Research indicates that the deletion of specific genes in this region, combined with a lack of maternal folate, can significantly increase the risk of neural tube defects in offspring.
Article Synopsis
- - Rubinstein-Taybi syndrome (RTS) is a genetic condition characterized by intellectual disability, unique facial features, limb abnormalities, and unusual growth patterns, caused by mutations in the CBP and p300 genes.
- - A diverse range of clinical and diagnostic practices for RTS exists worldwide, highlighted by discussions among international experts and support groups.
- - This report presents consensus recommendations for clinical diagnostic criteria, molecular investigations, and long-term management of RTS, emphasizing the need for ongoing evaluation to improve patient care.
Article Synopsis
- - The study explores pre-mRNA splicing, its critical role in neurodevelopment, and how mutations in spliceosome-related genes U2AF2 and PRPF19 contribute to neurodevelopmental disorders (NDDs).
- - Researchers found multiple pathogenic variants in U2AF2 and PRPF19 across unrelated individuals, with functional analysis showing that specific U2AF2 variants disrupted normal splicing and neuritogenesis in human neurons.
- - Additionally, investigations in Drosophila models revealed that the loss of function in U2AF2 and PRPF19 caused severe developmental defects and social issues, pointing to a genetic network wherein splicing factors like Rbfox1 play a significant role in brain development and function. *
Article Synopsis
- The 22q11.2 deletion syndrome is a genetic condition that's common and often linked to heart problems. Prenatal testing for this condition is becoming more common.
- This study looked at how well babies do when they are diagnosed before they are born versus after they are born.
- They found that, overall, the chance of dying in the first year didn't change much between those diagnosed early or late, but serious heart problems and when the baby was born affected the results.