Publications by authors named "L Trujillano"
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.
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- - 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