A5052598809- Lysosomal Storage Disorders Research
- Genomic variations and chromosomal abnormalities
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Genomics and Rare Diseases
- Congenital heart defects research
- Glycosylation and Glycoproteins Research
- Research on Leishmaniasis Studies
- Studies on Chitinases and Chitosanases
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Chronic Lymphocytic Leukemia Research
- Galectins and Cancer Biology
- Protein Tyrosine Phosphatases
- Trypanosoma species research and implications
- Genetic Syndromes and Imprinting
- Finance, Taxation, and Governance
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Taxation and Legal Issues
- Neurogenetic and Muscular Disorders Research
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Epigenetics and DNA Methylation
- Parasitic Diseases Research and Treatment
Hospital Universitario Virgen del Rocío
2015-2025
Universidad de Sevilla
2014-2024
Instituto de Biomedicina de Sevilla
2014-2023
Hospital San Juan de la Cruz
2017
Centro de Investigaciones Científicas Isla de la Cartuja
2014
National Institute on Population Medical Genetics
2010
Hospital Universitario Virgen Macarena
2007
Abstract Costello syndrome is a rare condition comprising mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy, and/or atrial tachycardia), tumor predisposition, and skin musculoskeletal abnormalities. Recently mutations in HRAS were identified 12 Japanese Italian patients with clinical information available on 7 of the patients. To expand molecular delineation syndrome, we performed mutation analysis 34...
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder fewer manifestations mild abnormalities. Accurate assessments on frequency clinical characteristics have been scarce. The aim this study was collect such data.
ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function have not been proven conclusively. We describe heterozygous deletions nonsense frameshift in 33 individuals with developmental delay, apparent increased...
Abstract Macrocephaly–capillary malformation (M‐CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features 13 cases, report on genome‐wide Copy Number Variation characterization these patients, analyze main this propose modification current diagnostic criteria: inclusion both overgrowth/asymmetry neuroimaging alterations as major criteria. © 2010 Wiley‐Liss, Inc.
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) electroencephalograms (EEG), potential biomarkers have been postulated, including changes background activity, fixation-off sensitivity (FOS) or eye closure (ECS). In this study we clinically evaluate new cohort 36 SYNGAP1-DEE individuals. Standardized questionnaires were...
Objective To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort Spanish patients. Methods We analyzed CCM1, CCM2, CCM3 genes by MLPA direct sequencing exons intronic boundaries 94 familial forms 41 sporadic cases CCM patients extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing. Results A total 26 pathogenic mutations, 22 which predict truncated proteins, identified 29 three cases. The...
Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from disruption neural crest cell migration during embryonic development. It has complex genetic aetiology with several genes involved in its pathogenesis. PHOX2B plays key function development derivatives, and heterozygous mutations cause dysautonomia associating HSCR, Congenital Central Hypoventilation Syndrome (CCHS) neuroblastoma (NB) various combinations. In order to determine role isolated we performed...
Abstract Background Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of parasympathetic intrinsic ganglion cells in submucosal and myenteric plexuses along variable portion intestinal tract. In approximately 18% cases HSCR also presents with multiple congenital anomalies including recognized syndromes. Methods A combination MLPA microarray data analysis have been undertaken to refine duplication at Xq28 region. Results this study we present new clinical...
The Simpson-Golabi-Behmel syndrome (SGBS) (OMIM 312870) is an overgrowth/multiple congenital anomalies caused by a semi-dominant X-linked gene encoding glypican 3 (GPC3). It shows great clinical variability, ranging from mild forms in carrier females to lethal with failure thrive males. most consistent findings SGBS are pre- and postnatal macrosomia, characteristic facial abnormalities affecting the internal organs, skeleton, on some occasions, mental retardation of variable degree. also...
Combination of risk factors in spina bifida metabolism have both been shown to induce neural tube defects (NTD) humans and animal models.However, the relationship between these two development NTDs remains unclear.Data from mothers children with seen at Unidad de Espina Bífida del Hospital Infantil Virgen Rocío (case group) were compared healthy no NTD (control who randomly selected patients outpatient ward same hospital.There 25 individuals case group 41 control group.Analysis genotypes for...
The purpose of this study was to examine the applicability use samples in dried blood spot (DBS) for definitive diagnosis Fabry disease (FD) males and females compare diagnostic role α-galactosidase A activity (α-Gal A), levels lyso-Gb3 sequencing GLA gene screening patients with suspected FD. Measurement α-Gal FD DBS made followed by determination sequencing. Of 2381 subjects analyzed, confirmed 24 patients. Thirteen different variants were considered like pathogenic, five which had not...
Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS) intravenous enzyme replacement therapy approved treatment for patients with MPS VII. Methods This monitoring program (DMP) ongoing, multicenter observational study collecting standardized real-world data from ( N ≈ 50 planned) treated vestronidase...
Monosomy 10p is a rare chromosomal disorder with prevalence <1/1,000,000, in which terminal or interstitial distal region of chromosome 10 deleted resulting variable phenotype depending on the size deletion. Two main phenotypes have been defined location deletion: HDR syndrome (Hypoparathyroidism, sensorineural Deafness, and Renal disease), DGS2 (DiGeorge type 2). The vast majority cases reported so far resulted from de novo events. Here, we present first familial presentation this...
Abstract The use of first and second generation antiepileptic drugs during pregnancy doubles the risk major congenital malformations other teratogenic defects. Lacosamide (LCM) is a third-generation drug that interacts with collapsing response mediator protein 2, has been associated neurodevelopmental diseases like schizophrenia. aim this study was to test potential effects LCM on developing embryos its behavioural/histological alterations in adult mice. We administered pregnant mice,...
Abstract Several studies show great heterogeneity in the type of genetic test requested and clinicopathological characteristics patients with ASD. The following study aims, firstly, to explore factors that might influence professionals’ decisions about appropriateness requesting testing for their ASD and, secondly, determine prevalence alterations a representative sample children diagnosis Methods: We studied clinical associated request 440 present alterations. Even though main guidelines...
Purpose Greig cephalopolysyndactyly (GCPS) (OMIM 175700), a rare autosomal dominant disorder, is characterized by distinct combination of craniofacial, hand and foot malformations. The malformations often require orthopedic assessment treatment. disorder caused point mutations or deletions in the GLI3 gene, located on chromosome 7p14.3. Herewith, we review cohort 13 patients referred for genetic testing. Methods We reviewed medical files with GCPS seen at Center Human Genetics Leuven between...
Abstract Rationale: Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, slow task. Patient concerns: Male child patient multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations, eye anomalies. Diagnosis: The remained clinically undiagnosed until the results were conclusive allowed to associate its clinical features germline ABL1 mutations-associated syndrome. Interventions: We performed whole-exome...
The proximal 19p13.3 microdeletion/microduplication (prox19p13.3del/dup) syndrome is a recently described disorder with common clinical features including developmental delay, intellectual disability, speech facial dysmorphic ear defects, anomalies of the hands and feet, umbilical hernia hypotonia. While deletions are associated macrocephaly, patients duplications have microcephaly. smallest region overlap in multiple (113.5 kb) included three genes one pseudogene, suggested major role PIAS4...
Abstract Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence estimated to vary from 0.02 0.24 per 100,000 live births. The clinical course and disease progression widely heterogeneous, most patients have been reported show signs such as skeletal deformities or cognitive delay. Additionally, detection...
Abstract Infantile systemic hyalinosis (ISH) is a presumed autosomal recessive connective tissue condition. Symptoms usually begin at birth or shortly thereafter, and are characterized by pain when handled, painful swollen joints and, later on, dermal anomalies, diarrhea, failure to thrive recurrent infections, which lead death around the age of 2. The skin has generally diminished elasticity with small pearly papules appearing on neck, ears, coccygeal region, face. We present two unrelated...