Daryl A. Scott
A5085873463- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Tracheal and airway disorders
- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- Congenital Ear and Nasal Anomalies
- RNA Research and Splicing
- Congenital Anomalies and Fetal Surgery
- Neonatal Respiratory Health Research
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Chromatin Remodeling and Cancer
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Renal and related cancers
- RNA and protein synthesis mechanisms
- Esophageal and GI Pathology
- Cleft Lip and Palate Research
- Metabolism and Genetic Disorders
- Connective tissue disorders research
Baylor College of Medicine
2016-2025
Texas Children's Hospital
2009-2024
Baylor Genetics
2024
Neurological Research Institute
2022
University of California System
2022
South Bend Museum of Art
2020-2021
National Institute of Health
2020
The Ohio State University
2019
National Center on Birth Defects and Developmental Disabilities
2019
Triangle
2019
<h3>Background</h3> Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism developmental delay. <h3>Method</h3> We indentified 27 deletions 18 duplications of identified 0.6% all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular phenotypic characterisations performed on 17 deletion subjects ten duplication. <h3>Results</h3> The most common manifestations 10 speech/language delay cognitive impairment....
<h3>Importance</h3> While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution single-gene disorders in this group is undetermined. <h3>Objective</h3> To determine diagnostic yield use clinical exome sequencing critically ill infants. <h3>Design, Setting, Participants</h3> Clinical was performed for 278 unrelated infants within first 100 days life who were admitted Texas Children’s Hospital Houston, Texas, during 5-year...
Several neurodegenerative diseases are typified by intraneuronal α-synuclein deposits, synaptic dysfunction, and dementia. While even modest elevations can be pathologic, the precise cascade of events induced excessive eventually culminating in synaptotoxicity is unclear. To elucidate this, we developed a quantitative model system to evaluate evolving α-synuclein-induced pathologic with high spatial temporal resolution, using cultured neurons from brains transgenic mice overexpressing...
Hearing loss is a common and complex condition that can occur at any age, be inherited or acquired, associated with remarkably wide array of etiologies. The diverse causes hearing loss, combined the highly variable often overlapping presentations different forms challenge ability traditional clinical evaluations to arrive an etiologic diagnosis for many deaf hard-of-hearing individuals. However, identifying etiology may affect management, improve prognostic accuracy, refine genetic...
Mitogen-activated protein kinase (MAPK) pathways are major mediators of extracellular signals that transduced to the nucleus. MAPK signaling is attenuated at several levels, and one class dual-specificity phosphatases,the phosphatases (MKPs), inhibit by dephosphorylating activated MAPKs. Several MKPs themselves induced they regulate, forming negative feedback loops attenuate signals. We show here in mouse embryos, Fibroblast growth factor receptors (FGFRs) required for transcription Dusp6,...
Pendred syndrome is an autosomal recessive disorder characterized by early childhood deafness and goiter. A century after its recognition as a Vaughan Pendred, the disease gene (PDS) was mapped to chromosome 7q22–q31.1 and, recently, found encode putative sulfate transporter. We performed mutation analysis of PDS in patients from 14 families originating seven countries identified all mutations. The mutations include three single base deletions, one splice site 10 missense One (L236P)...
Somatic chromosomal mosaicism is a well-established cause for birth defects, mental retardation, and, in some instances, specific genetic syndromes. We have developed clinically validated, targeted BAC clone array as platform comparative genomic hybridization (aCGH) to enable detection of wide range pathologic copy number changes DNA. It designed provide high sensitivity detect well-characterized submicroscopic micro-deletion and duplication disorders while at the same time minimizing...
Abstract Recurrent interstitial deletion of a region 8p23.1 flanked by the low copy repeats 8p‐OR‐REPD and 8p‐OR‐REPP is associated with spectrum anomalies that can include congenital heart malformations diaphragmatic hernia (CDH). Haploinsufficiency GATA4 thought to play critical role in development these birth defects. We describe two individuals monozygotic twin pair discordant for anterior CDH all whom have complex defects caused this recurrent as demonstrated array comparative genomic...
We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our chromosomal microarray analysis (CMA) database 25,144 patients subjected to genome-wide assays. This guided approach empirically derived large data set allowed us investigate genomic rearrangement relative frequencies identify new loci for recurrent nonallelic homologous...
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating hotspots in the University of Alabama Birmingham (UAB) cohort, together identified 1.8% unrelated individuals. About 25% (95% confidence interval: 20.5–31.2%) heterozygous for p.Lys1423 had Noonan-like phenotype, which is significantly more compared with "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and variants were...
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated mild phenotype without any externally visible tumors.MethodsA total of 135 from 103 unrelated families, carrying constitutional p.Met992del pathogenic variant and clinically assessed using...
Pendred syndrome, characterized by congenital sensorineural hearing loss and goiter, is one of the most common forms syndromic deafness. The gene causing syndrome (PDS) encodes a protein designated pendrin, which expressed in thyroid, kidney, fetal cochlea. Pendrin functions as an iodide chloride transporter, but its role development goiter unknown. In this study, we examined mechanism pendrin-mediated anion transport Xenopus laevis oocytes. Unlabeled formate added to uptake medium inhibited...
The PDS gene encodes a transmembrane protein, known as pendrin, which functions transporter of iodide and chloride. Mutations in this are responsible for Pendred syndrome autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31. A screen 20 individuals from midwestern USA with dilated vestibular aqueducts identified three people (15%) mutations. To determine whether mutations differ functionally loss, we compared common allele variants (L236P, T416P E384G),...
We present four patients, in whom we identified overlapping deletions 5q14.3 involving MEF2C using a clinical oligonucleotide array comparative genomic hybridization (CGH) chromosomal microarray analysis (CMA). In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of 3-year-old patient with severe psychomotor retardation, periodic tremor, and abnormal motor pattern mirror movement upper limbs observed during infancy, hypotonia, EEG, epilepsy, absence...
<h3>Background</h3> Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to development CDH remain unidentified. <h3>Objective</h3> To identify genomic alterations defects. <h3>Methods</h3> A cohort 45 unrelated patients with or eventrations was screened for by array comparative hybridisation single nucleotide polymorphism based copy number analysis. <h3>Results</h3> Genomic were likely have contributed identified in 8...