Carmen Orellana
A5025289073- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Chromosomal and Genetic Variations
- Neuroblastoma Research and Treatments
- Congenital heart defects research
- RNA modifications and cancer
- Chromatin Remodeling and Cancer
- Congenital Diaphragmatic Hernia Studies
- Cancer, Hypoxia, and Metabolism
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA regulation and disease
- Neuroendocrine Tumor Research Advances
- Congenital Anomalies and Fetal Surgery
- Ubiquitin and proteasome pathways
- Genomics and Chromatin Dynamics
- Firm Innovation and Growth
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Williams Syndrome Research
- Hedgehog Signaling Pathway Studies
- Lysosomal Storage Disorders Research
Hospital Universitari i Politècnic La Fe
2015-2025
Instituto de Investigación Sanitaria La Fe
2016-2025
Leitat Technological Center
2017-2022
Maastricht University
2022
Hospital de Clínicas
1990-2013
Escuela Nacional de Antropología e Historia
2004
National Institute of Anthropology and History
2004
University of Alicante
1987
We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, variable neurologic features, all male individuals. Simultaneous studies using diverse strategies led to the identification of nine families overlapping clinical presentations affected by de novo or maternally inherited single-nucleotide changes. Two additional harboring large...
<h3>Background</h3> Intellectual disability is a very complex condition where more than 600 genes have been reported. Due to this extraordinary heterogeneity, large proportion of patients remain without specific diagnosis and genetic counselling. The need for new methodological strategies in order detect greater number mutations multiple therefore crucial. <h3>Methods</h3> In work, we screened panel 1256 (646 pathogenic, 610 candidate) by next-generation sequencing determine the molecular...
<h2>ABSTRACT</h2><h3>Purpose</h3> Pathogenic variants in ARID1B are one of the most frequent causes intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data representative for identified through unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic phenotypic differences between ARID1B-ID ARID1B-CSS. In...
SMARCC2 (BAF170) is one of the invariable core subunits ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis corticogenesis. Pathogenic variants genes encoding other components have been associated with intellectual disability syndromes. Despite its significant biological role, not directly human disease previously. Using whole-exome sequencing web-based gene-matching program, we identified 15 individuals variable degrees...
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of long arm chromosome 22 (22q13.3) or pathogenic sequence variants in SHANK3 gene. codes for a structural protein that plays central role formation postsynaptic terminals and maintenance synaptic structures. Clinically, patients with PMS often present global developmental delay, absent severely delayed speech, neonatal hypotonia, minor dysmorphic features, autism spectrum disorders...
Neuroblastoma (NB) is an embryonal tumour of neuroectodermal cells, and its prognosis based on patient age at diagnosis, stage MYCN amplification, but it can also be classified according to their degree methylation. Considering that epigenetic aberrations could influence survival, we studied the methylation status a series 17 genes functionally involved in different cellular pathways patients with NB impact survival. We 82 primary tumours used methylation-specific-PCR perform analysis....
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% all FOP patients worldwide, but provide an unprecedented opportunity to probe the phenotype–genotype relationships that propel pathology this disabling disease. We evaluated two unrelated children who had severe reduction deficits hands and feet with absence nails, progressive heterotopic ossification, hypoplasia brain stem, motor cognitive developmental delays, facial dysmorphology, small malformed teeth, abnormal...
ABSTRACT 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, distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform detailed molecular description establish genotype–phenotype correlation. We identified 19 variants, nine of which are novel....
Rare diseases (RDs) often have a genetic basis, yet conventional diagnostic techniques fail to identify causative variations in up 50% of cases. Structural variants (SVs), including balanced rearrangements, frequently evade detection by karyotyping, microarray, and exome sequencing. The present study utilized optical genome mapping (OGM) investigate two patients with RDs whose etiology remained unresolved despite prior genomic analyses. Patient 1 exhibited reciprocal translocation disrupting...
The implementation of non-invasive prenatal testing (NIPT) in maternal plasma, based on cell-free DNA (cfDNA) analysis, has progressed over the last two decades and is now integrated into Spanish National Health System. However, there remains significant heterogeneity its indications, technical methodologies, reporting standards, reflecting international variability. This guide, developed by experts from Association Prenatal Diagnosis (AEDP) Human Genetics (AEGH), provides recommendations to...
Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases. Array based comparative genomic hybridisation (array-CGH) allows detection of an increasing alterations.A series 46 patients with mental and congenital abnormalities (previously screened for subtelomeric rearrangements) were evaluated cryptic chromosomal imbalances array-CGH. This array contains 6465 large-insert BAC/PAC clones, representing...
MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor behavioural features. To date, fewer than 200 cases have been published. We report the clinical molecular characterization of Spanish MDS cohort that included 19 boys 2 girls. Clinical suspicions were confirmed array comparative genomic hybridization multiplex ligation-dependent probe amplification (MLPA)....
Neuroblastoma (NB) is a pediatric cancer of highly variable clinical outcome. Much effort devoted to detection minimal residual (MRD) disease through RT-PCR or immunology tissue-specific markers. Tyrosine hyrdroxylase (TH) has demonstrated high utility assess dissemination, although this marker can be lost due clonal variability. Here we propose the use doublecortin (DCX) gene as new molecular neuroblastoma cells. DCX specifically appears in migrating neurons central and peripheral nervous...