Publications by authors named "Laura Trujillano"
Article Synopsis
- - Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that impacts physical development and cognitive abilities, primarily caused by mutations in genes linked to the cohesin complex, though many cases remain undiagnosed.
- - The study presents a family case where multiple members have an intragenic duplication in the AFF2 gene, identified using advanced genomic technologies like high-resolution array Comparative Genomic Hybridization and next-generation sequencing.
- - The research shows a clear correlation between the AFF2 gene mutation and the CdLS phenotype, with the affected individuals displaying significant changes in gene expression and X-inactivation patterns compared to an unaffected relative, suggesting that AFF2 should be included in molecular diagnosis for CdLS.
Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies for clinical features in all organ systems as well as molecular data.
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- The study investigates 11 previously unreported patients with a neurodevelopmental disorder (NDD) caused by genetic changes in the RNU4-2 gene, highlighting the need for better diagnostic approaches as many NDDs remain undiagnosed.
- The patients, ranging from 13 months to 36 years old, exhibited severe developmental delays, distinct physical features, and other health issues like microcephaly and intrauterine growth retardation.
- The findings enhance the understanding of RNU4-2 syndrome's phenotypic spectrum, emphasizing the importance of thorough clinical evaluations in identifying and characterizing new syndromes in patients with NDDs.
Article Synopsis
- Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting various body systems, and this study focused on assessing the quality of life (QoL) of 33 individuals with CdLS, aged 4 to 21 years, using the Kidslife questionnaire.
- The findings showed that participants had a below-median QoL, particularly in physical well-being, personal development, and self-determination, with key risk factors identified as variants in the NIPBL gene and significant behavioral and communication challenges.
- The study calls for a holistic approach to CdLS that includes clinical, molecular, and psychosocial support, and emphasizes the importance of targeted interventions to improve QoL
Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks.
View Article and Find Full Text PDF(Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. acts as a transcriptional repressor protein that is involved in the regulation of histone methyltransferase complexes.
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- Neurodevelopmental disorder (-NDD) is a rare genetic condition known for causing developmental delays, distinct facial features, and birth defects, with heart disease (HD) commonly observed but under-researched.
- In a study of 11 -NDD patients, 7 were found to have heart disease, including cases of ascending aortic dilatation and mitral valve prolapse, but overall cardiac function appeared normal compared to healthy controls.
- The findings underscore the necessity of cardiac evaluations for all individuals with -NDD, noting a significant prevalence of heart abnormalities in this patient group, alongside new insights into specific heart issues previously undocumented in the syndrome.
The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Hyperprolactinemia was the most common endocrine disorder.
View Article and Find Full Text PDFClinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their decision are virtually non-existant in Europe. In this work, we report the acceptance rate of SFs, calculate their prevalence and study factors associated with the decision in a cohort of patients affected with a rare genetic disorder in a Spanish Hospital.
View Article and Find Full Text PDFThis study assesses a possible cardiac dysfunction in individuals with Cornelia de Lange syndrome (CdLS) without diagnosed congenital heart disease (CHD) and its association with other factors. Twenty patients and 20 controls were included in the study divided into three age-dependent groups (A: < 10 yrs, B: 10-20 yrs, C: > 20 yrs), and were evaluated using conventional echocardiography, tissue doppler imaging (TDI), two-dimensional speckle tracking and genetic and biochemical analyses. The left ventricular global longitudinal strain (GLS) was altered (< 15.
View Article and Find Full Text PDFCornelia de Lange syndrome (CdLS) is a multisystemic genetic disorder characterized by distinctive facial features, growth retardation, and intellectual disability, as well as various systemic conditions. It is caused by genetic variants in genes related to the cohesin complex. Single-nucleotide variations are the best-known genetic cause of CdLS; however, copy number variants (CNVs) clearly underlie a substantial proportion of cases of the syndrome.
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- - KBG syndrome (KBGS) is marked by unique facial features, short stature, and varied clinical symptoms, with a significant portion of individuals experiencing intellectual disability and epilepsy.
- - A recent European study examined 49 KBGS patients using advanced genetic testing to understand the syndrome better, revealing common traits like dental anomalies and skeletal issues alongside neurological concerns.
- - The findings suggest that clinicians should be aware of a broader range of symptoms, especially dental and palatal abnormalities, and include specific genetic testing for more accurate diagnosis and management of KBGS.
Article Synopsis
- * The research reveals that somatic damaging NIPBL variants are often negatively selected in blood, and indicates a notable 13.1% prevalence of mosaicism among patients with a confirmed molecular diagnosis of CdLS.
- * Most patients with mosaicism exhibit severe symptoms similar to those with stable (constitutive) pathogenic variants, but the types of genetic mutations remain consistent across both types, emphasizing the need for improved clinical management and genetic counseling for affected families.
Article Synopsis
- Cornelia de Lange syndrome (CdLS) is challenging to diagnose due to its recognizable facial features and genetic diversity among affected individuals.
- A study involving 49 patients with CdLS identified that the DeepGestalt technology and Face2Gene app effectively predicted CdLS as the top syndrome in 97.9% of cases.
- The research suggests that using deep learning for image analysis can enhance diagnostic accuracy and potentially help differentiate between genetic subtypes of CdLS.