A5006218980- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Peroxisome Proliferator-Activated Receptors
- Congenital heart defects research
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Genetic Neurodegenerative Diseases
- Diet and metabolism studies
- Folate and B Vitamins Research
- Infectious Encephalopathies and Encephalitis
- Neurological and metabolic disorders
- Chromatin Remodeling and Cancer
- Epilepsy research and treatment
- Cellular transport and secretion
- Fetal and Pediatric Neurological Disorders
- Neuroblastoma Research and Treatments
- Neonatal Health and Biochemistry
- Neurological disorders and treatments
- Genetic and rare skin diseases.
- RNA regulation and disease
- Nephrotoxicity and Medicinal Plants
University of Alabama at Birmingham
2007-2022
Washington Center
2016
University of Washington
2016
University of Alabama
1995-2016
Children's of Alabama
1995-2007
Southern General Hospital
1998
Baylor College of Medicine
1998
King Faisal Specialist Hospital & Research Centre
1998
Howard Hughes Medical Institute
1998
Washington University in St. Louis
1992
Abstract Recent studies suggest that copy number variations (CNVs) encompassing several genes involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric phenotypes, including developmental delay (DD), mental retardation (MR), and autism spectrum disorders (ASDs). Here we present eight patients cohort ∼1,200 referred for clinical array CGH testing various who were identified to carry small (<1.0 Mb the majority <500 kb) either total gene or intragenic...
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...
<b>Objective: </b> To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations. <b>Background: The association of progressive pigmentary macular dystrophy clinically defines a distinct form ADCA classified as SCA-7. is caused by expansion highly unstable CAG repeat that lies coding region novel gene on chromosome 3p12-13. <b>Methods: We screened 51 kindreds, which SCA-1, SCA-2, SCA-3, SCA6 mutations had been excluded,...
Maple syrup urine disease and argininosuccinate synthetase deficiency are two of many inborn errors metabolism that may result in neonatal encephalopathy. Early treatment is designed to suppress endogenous proteolysis amino acid catabolism with the infusion glucose, remove presumed toxic metabolites. The latter goal has been accomplished exchange transfusion, 13 peritoneal dialysis, 24 hemodialysis. 2, 3 We present cases neonates, one M S U D other deficiency. infants were treated...
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With exception French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expanded spectrum SLC25A15/ORC1 mutations. Eleven novel mutations were identified including six new missense one microrearrangement. We also measured transport properties recombinant purified proteins reconstituted...
Congenital disorders of glycosylation (CDG) arise from pathogenic mutations in over 100 genes leading to impaired protein or lipid glycosylation. ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition first nine mannose moieties form dolichol-lipid linked oligosaccharide intermediate required for proper N-linked cause rare autosomal recessive disorder termed ALG1-CDG. To date 13 18 patients 14 families have been described with varying degrees clinical severity. We identified and...
We determined the nucleotide sequences of junctional regions associated with large deletions mitochondrial DNA found in four unrelated individuals a phenotype chronic progressive external ophthalmoplegia. In each patient, deletion breakpoint occurred within directly repeated sequence 13-18 base pairs, present different normal genome-separated by 4.5-7.7 kilobases. two patients, were identical. When all are compared, consensus 11 nucleotides emerges, similar to putative recombination signals,...
We report three unrelated patients with small terminal deletions involving 1p36.22-->pter that occurred de novo and compare our to the 10 previously reported cases. Although have an identical cytogenetic deletion, 1 2 share similar clinical features differ substantially from patient 3. Our confirm existence of two characteristic phenotypes in deletion. Both some dysmorphic features, but are differentiated by characteristics growth failure versus macrosomia. In addition, we new finding...
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection define the severity of defect, but also identify other patients with defects same gene. an infant patient sensorineural hearing loss, psychomotor retardation epilepsy, resulted identification novel homozygous CLPP frameshift mutation (c.21delA). Based on gene defect symptoms,...
<b><i>Article abstract</i></b> We present four patients with typical neonatal onset nonketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounced atrophy of the white matter, and an extremely thin corpus callosum all. The three older had profound developmental disabilities. This suggests that development NKH is additional poor prognostic sign.