A5059592534- Prenatal Screening and Diagnostics
- Retinal Development and Disorders
- Congenital Anomalies and Fetal Surgery
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Congenital Ear and Nasal Anomalies
- Reconstructive Facial Surgery Techniques
- Urological Disorders and Treatments
- Ocular Disorders and Treatments
- Folate and B Vitamins Research
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- interferon and immune responses
- RNA regulation and disease
- Congenital Heart Disease Studies
- Glaucoma and retinal disorders
- Cleft Lip and Palate Research
- Cholesterol and Lipid Metabolism
- melanin and skin pigmentation
- Congenital heart defects research
- Sexual Differentiation and Disorders
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- Urologic and reproductive health conditions
- Congenital limb and hand anomalies
The University of Texas Medical Branch at Galveston
2016-2024
National Center on Birth Defects and Developmental Disabilities
2019
Triangle
2019
Indianapolis Zoo
2019
John Wiley & Sons (United States)
2019
The University of Texas Health Science Center at Houston
2009-2011
The University of Texas at Austin
2011
SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted case reports small series without in‐depth phenotypic characterization or genotype‐phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals a molecularly confirmed diagnosis...
Abstract Duplications in the 22q11.2 region can cause duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system other congenital abnormalities. However, contribution these contiguous duplicated regions to clinical has not been fully elucidated. In this study, we identified nine patients carrying different microduplications detected by chromosomal microarray. Of patients, seven pediatric...
Objective: To characterize the visual phenotype caused by mutations in BTB-Kelch protein, KLHL7, responsible for RP42 form of autosomal dominant retinitis pigmentosa (RP).Methods: Comprehensive ophthalmic testing included acuity, static field, kinetic dark adaptometry, full-field electroretinography, spectraldomain optical coherence tomography, and fundus photography.Longitudinal function data (range, 15-27 years) were available some affected individuals.Results: We report a phenotypic...
Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used the Texas Birth Defects Registry for deliveries between 1999 and 2014 residents, including 1884 cases cleft palate (CP) 5289 lip or without (CL±P) known syndrome. identified CP CL±P observed more frequently than would be expected if these occurred independently. calculated adjusted observed-to-expected ( O/ E) ratios account tendency birth...
To present a case series that illustrates real-world use of pegvaliase based on the initial experiences US healthcare providers.Sixteen providers from 14 centers across with substantial clinical experience in treating patients phenylketonuria (PKU) two-plus years since FDA approval (May 2018) provided cases exemplified important lessons their pegvaliase. Key each and takeaway points were discussed both live virtual meetings.Fifteen adults PKU (eight males, seven females), representing...
Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range that is safe for neurologic function. Elevated Phe a risk factor congenital anomalies and developmental delay offspring resulting from pregnancies poor control women PKU. Enzyme supplementation pegvaliase allows adults to eat an unrestricted diet levels pregnancy but has not been approved use pregnant females We report results of chart review 14 living affected who were responsive chose remain on throughout...
Abstract Background Few studies have systematically evaluated birth defect co‐occurrence patterns, perhaps, in part, due to the lack of software designed implement large‐scale, complex analytic methods. Methods We created an R‐based platform, “co‐occurring analysis” (CODA), analyses patterns registries. CODA uses established algorithm for calculating observed‐to‐expected ratio a given combination, accounting known tendency defects co‐occur nonspecifically. To demonstrate CODA's feasibility,...
Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by pathogenic variants in NIPBL , RAD21 SMC3 HDAC8 or SMC1A ; all of which code for proteins that are components of, interact with, the cohesin complex. Despite identification multiple genes associated with CdLS, over 25% individuals strongly suspected to have CdLS negative testing, indicating there additional condition. HDAC2 codes histone deacetylase 2 (HDAC2) and, like HDAC8, a Class 1 deacetylase. We...
Pathogenic variants in TRAF7 are often de novo and features of individuals harboring these characterized by neurodevelopmental delay, ptosis, cardiac defects, limb anomalies, dysmorphic features. We present a familial case two African American patients with novel, likely pathogenic c.1936G>A variant TRAF7. Patient 1 is 31-year-old female patent ductus arteriosus (PDA), intellectual disability, other She was identified to harbor this mosaic (33.89%) state leukocytes. Her son, 2, 10-month-old...
Abstract Gastroschisis and omphalocele are the two most common abdominal wall birth defects, epidemiologic characteristics frequency of occurrence as part a syndromic condition suggest distinct etiologies between defects. We assessed complex patterns defect co‐occurrence with these defects separately using Texas Birth Defects Registry. used co‐occurring analysis (CODA) to compute adjusted observed‐to‐expected (O/E) ratios for all observed patterns. There were 2,998 non‐syndromic (i.e., no...
Infants with anophthalmia or microphthalmia frequently have co-occurring birth defects. Nonetheless, there been few investigations of defect patterns among these children. Such studies may identify novel multiple malformation syndromes, which could inform future research into the developmental processes that lead to anophthalmia/microphthalmia and assist physicians in determining whether further testing is appropriate.This study includes cases identified by Texas Birth Defects Registry from...
Abstract Many infants with anotia or microtia (A/M) have co‐occurring birth defects, although few receive syndromic diagnoses in the perinatal period. Evaluation of defects children A/M could identify patterns indicative undiagnosed/unrecognized syndromes. We obtained information on among for delivery years 1999–2014 from Texas Birth Defects Registry. calculated observed‐to‐expected ratios (OER) to defect combinations that occurred more often than expected by chance. excluded diagnosed...
Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range which is safe for neurologic function. Elevated Phe a risk factor congenital anomalies and developmental delay offspring collectively known as Maternal Syndrome (MPKU). Features of MPKU include intrauterine growth restriction (IUGR), increased frequency spontaneous abortion, heart disease, microcephaly, delays/intellectual disability. When efficacious, enzyme supplementation pegvaliase allows adults to eat an...
Abstract Congenital disorders of glycosylation (CDG) are a group rare autosomal recessive genetic caused by pathogenic variants in genes coding for N ‐glycosylated glycoproteins, which play role folding, degrading, and transport glycoproteins their pathway. ALG12‐CDG specifically is biallelic ALG12 . Currently reported features include: developmental delay, hypotonia, failure to thrive and/or short stature, brain anomalies, recurrent infections, hypogammaglobulinemia, coagulation...
Abstract Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five duplications, named breakpoints 1 5 (BP1–BP5), have been defined as recombination hotspots within 16p11.2. Common CNVs on include a proximal ~593 kb between BP4 and BP5, distal ~220 BP2 BP3. We performed search patients carrying CNVs, detected using chromosome microarray (CMA), in Molecular Diagnostic Laboratory at University...
Abstract Few population‐based studies have analyzed patterns of co‐occurring birth defects among those with trisomy 13. We evaluated the frequency all possible combinations any one, two, three, or four additional 736 individuals 13 using data from Texas Birth Defects Registry for deliveries during 1999–2014. calculated observed‐to‐expected ratio each combination, adjusting known tendency to cluster non‐specifically. To address potential ascertainment differences live births and non‐live...
<abstract> <p>Patients with chromosome 22q11.2 deletion syndromes classically present variable cardiac defects, parathyroid and thyroid gland hypoplasia, immunodeficiency velopharyngeal insufficiency, developmental delay, intellectual disability, cognitive impairment, psychiatric disorders. New technologies including microarray have identified smaller deletions in the region. An increasing number of studies reported patients presenting various features harboring deletions,...
Abstract Background Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part may be indicative uniparental disomy (UPD) and require additional testing when such chromosomes regions are known to harbor imprinted genes. Case presentation Here we report 2 cases neonates that presented clinic with hypotonia, poor oral skills including inability feed by mouth, weak cry, no response noxious stimulation vertical plantar creases (case 1) hypotonia respiratory distress...