Saoud Tahsin Swafiri
A5015762061- Retinal Development and Disorders
- Genomics and Rare Diseases
- Retinal Diseases and Treatments
- Genetics and Neurodevelopmental Disorders
- Developmental Biology and Gene Regulation
- Ocular Disorders and Treatments
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Cellular transport and secretion
- Fetal and Pediatric Neurological Disorders
- Cell Adhesion Molecules Research
- Genetic and Kidney Cyst Diseases
- Marine Ecology and Invasive Species
- Ocular Diseases and Behçet’s Syndrome
- Liver Disease Diagnosis and Treatment
- RNA modifications and cancer
- Vitamin D Research Studies
- Advanced Nanomaterials in Catalysis
- Vitamin C and Antioxidants Research
- Connective tissue disorders research
- Ubiquitin and proteasome pathways
- Reproductive Biology and Fertility
- Pancreatic function and diabetes
- Neurogenetic and Muscular Disorders Research
- Liver physiology and pathology
Hospital Universitario Fundación Jiménez Díaz
2017-2025
Universidad Autónoma de Madrid
2017-2025
Centre for Biomedical Network Research on Rare Diseases
2017-2025
Instituto de Salud Carlos III
2017-2025
Instituto de Investigación de Enfermedades Raras
2017-2022
Hospital Universitario Puerta de Hierro Majadahonda
2012
Abstract Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address landscape IRD in largest cohort Spanish patients reported date. A retrospective hospital-based cross-sectional study carried out on 6089 affected individuals (from 4403 unrelated families), referred for testing from all autonomous communities. Clinical, demographic...
Abstract Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger before reporting. Validation all NGS considerably increases turnaround time and costs clinical diagnosis. We comprehensively assessed this in 1109 from 825 exomes, largest sample set date Illumina chemistry reported. With a concordance 100%, we conclude can very useful as an internal quality control, but not so much verification method for...
Abstract Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include use next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array (aCGH). This study compares diagnostic yield obtained by aCGH clinical exome in NDD globally its spectrum disorders. To that end, 1412 patients clinically diagnosed with NDDs studied were classified into phenotype categories: global...
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported. Our main goal to elucidate the role of mutational load clinical variability BBS. A cohort 99 patients from 77 different families with biallelic pathogenic variants a BBS-associated gene was retrospectively recruited. Human Phenotype Ontology terms were used annotation symptoms. The 39 BBS-related genes...
Purpose: To assess the potential of next-generation sequencing (NGS) technologies to characterize cases diagnosed with autosomal recessive (ar) or sporadic (s) macular dystrophies (ar/sMD) and describe their mutational spectrum. Methods: A cohort 1036 families was classified according suspected clinical diagnosis—Stargardt disease (STGD), cone cone-rod dystrophy (CCRD) other maculopathies (otherMD). Molecular studies included genotyping microarrays, Sanger sequencing, NGS, intronic regions...
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, with a worldwide prevalence 1 in 4000 persons. While cases RP, disease limited to eye (non-syndromic), over 40 forms syndromic RP have been described.To identify genetic basis for three unrelated families from Israel and Spain.Whole exome sequencing was conducted one Israeli two Spanish segregating autosomal recessive intellectual disability. Complete ophthalmic examination included best-corrected visual...
Abstract Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include ciliopathies, other well-defined clinical syndromes presenting with alterations cases non-specific multisystemic diseases. The heterogeneity these conditions makes molecular characterization patients challenging in daily practice. We explored the capacity targeted resequencing copy-number variation analysis to improve diagnosis...
Mutations in PAX6 are involved several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies the anterior or posterior segment. Here, we describe 3 families with variable inter-generational ocular expression aniridia, iris coloboma, microphthalmia, an unusual transmission mutations unaffected mildly affected parent; all which raised suspicion gonosomal mosaicism. We...
PurposeTo define genotype–phenotype correlations in the largest cohort study worldwide of patients with biallelic ABCA4 variants, including 434 Stargardt disease (STGD1) and 72 cone-rod dystrophy (CRD).DesignCohort study.MethodsWe characterized 506 variants using conventional genetic tools next-generation sequencing technologies. Medical history ophthalmologic data were obtained from 372 patients. Genotype–phenotype correlation studies carried out for following variables: variant type, age...
Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders, with challenging molecular underpinnings and clinical management. Our main goal is to improve SRDs diagnosis, by applying structured phenotypic ontology next-generation sequencing (NGS)-based pipelines. A prospective retrospective cohort study was performed on 100 probands an priori diagnosis non-Usher SRDs, using available data, including Human Phenotype Ontology annotation, further classification into...
Background KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients been reported. Both loss-of-function sequence variants large deletions (copy number variations, CNVs) involving ANKRD11 cause syndrome, but no genotype–phenotype correlation has Methods 67 with were assessed using custom phenotypical questionnaire. Manifestations present in >50% of the ‘phenotypical score’ used to perform 340 from our cohort literature....
PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze PRPH2 mutational spectrum in largest cohorts worldwide, and describe novel pathogenic variants genotype–phenotype correlations. A 220 patients from 103 families recruited database 5000 families. molecular diagnosis was performed using classical approaches next-generation sequencing. Common haplotypes were ascertained by analyzing...
An amendment to this paper has been published and can be accessed via a link at the top of paper.
Background The paired-domain transcription factor paired box gene 6 (PAX6) causes a wide spectrum of ocular developmental anomalies, including congenital aniridia, Peters anomaly and microphthalmia. Here, we aimed to functionally assess the involvement seven potentially non-canonical splicing variants on missplicing exon 6, which represents main hotspot region for loss-of-function PAX6 variants. Methods By locus-specific analysis using Sanger and/or targeted next-generation sequencing,...
MID1/TRIM18 is a member of the RING-containing Tripartite Motif family E3 ubiquitin ligases. MID1 mutations cause X-linked Opitz Syndrome (XLOS), neurodevelopmental genetic disease. We detected Cys56Arg substitution in with history midline developmental defects as first variant identified catalytic RING domain. This affects activity and alters subcellular localisation microtubule dynamics unique manner if compared to other XLOS-associated mutations. Our data suggest that relationship between...
To describe the genetic and clinical spectrum of GUCY2D-associated retinopathies to accurately establish their prevalence in a large cohort patients.Retrospective case series.Institutional study 47 patients from 27 unrelated families with retinal dystrophies carrying disease-causing GUCY2D variants Fundación Jiménez Díaz hospital dataset 8000 patients. Patients underwent ophthalmological examination molecular testing by Sanger or exome sequencing approaches. Statistical principal component...
Inherited Retinal Dystrophies (IRDs) are a group of rare diseases with prevalence 1:3000-4000 people. They genetic, primarily affecting retinal photoreceptors and epithelial pigmentary cells, lead to neurodegeneration finally apoptosis. In 2021, we published our global results obtained in registry at the Fundación Jiménez Díaz University Hospital (Madrid, Spain) from 1991 August 2019. Now, aimed update these until 2022. Thus, conducted retrospective hospital-based cross-sectional study on...
Congenital aniridia is a complex disease, characterized mainly by iris and foveal hypoplasia, but patients show great clinical variability with overlapping of different anterior posterior segment anomalies. More than 90% carry heterozygous variants in the PAX6 gene, highly conserved transcriptional regulator that plays key role normal ocular development. Loss‐of‐function causing premature stop codons are most frequent within broad mutational spectrum , more 750 mutations identified to date....