Mary K. Kukolich
A5009711727- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Congenital heart defects research
- Congenital limb and hand anomalies
- Connective tissue disorders research
- Neurogenetic and Muscular Disorders Research
- Down syndrome and intellectual disability research
- Epigenetics and DNA Methylation
- Congenital Heart Disease Studies
- Fetal and Pediatric Neurological Disorders
- Dermatological and Skeletal Disorders
- Congenital Anomalies and Fetal Surgery
- Congenital Ear and Nasal Anomalies
- Chromatin Remodeling and Cancer
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- RNA modifications and cancer
- Genetic and rare skin diseases.
- Sexual Differentiation and Disorders
- RNA regulation and disease
- Ocular Disorders and Treatments
Cook Children's Medical Center
2013-2024
Cook Children's Health Care System
2016-2024
Leipzig University
2024
Texas Tech University Health Sciences Center
2003
Texas Tech University
2003
Hadassah Medical Center
1995
Screen
1984-1995
Texas Department of State Health Services
1995
Mental Health Mental Retardation of Tarrant County
1978-1984
Texas College
1984
With the increasing number of genomic sequencing studies, hundreds genes have been implicated in neurodevelopmental disorders (NDDs). The rate gene discovery far outpaces our understanding genotype-phenotype correlations, with clinical characterization remaining a bottleneck for NDDs. Most disease-associated Mendelian are members families, and we hypothesize that those related molecular function share presentations.We tested hypothesis by considering families multiple an enrichment de novo...
The 17 genes of the T-box family are transcriptional regulators that involved in all stages embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many genes. For example, haploinsufficiency TBX1 is responsible for structural malformations DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report four individuals with an overlapping spectrum craniofacial dysmorphisms, cardiac anomalies, skeletal...
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific gives rise to recognizable intellectual disability syndrome. There is distinctive facial appearance (19/19), characterized by full and arched eyebrows, hypertelorism downslanting palpebral fissures, long eye lashes, ptosis, low set simple ears, bulbous nasal tip, wide mouth downturned corners thin upper lip an unusual "wavy" profile, flat philtrum, diastema of the teeth. Intellectual disability,...
To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy-causing variant p.Arg320His, determine electrophysiological functional impact of identified and explore genotype-phenotype-physiological correlations.Ten cases putative pathogenic in were studied. Variants had been via whole-exome sequencing or gene panel testing. Clinical phenotypic data analyzed. detected Kv 3.1 channel encoded by KCNC1, Xenopus laevis oocyte expression system...
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, has not rigorously evaluated as gene, associated phenotypes delineated. We identified 24 patients with NDD, establishing an NDD gene. Most had epilepsy onset the first few years of life, often characterized by generalized seizure types, including myoclonic atonic seizures. Our data show broader phenotypic spectrum than previously described, myoclonic‐astatic...
Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and syndactyly of remaining digits. The disorder genetically heterogeneous, with at least two loci thus far determined: an autosomal locus 7q21 designated SHFM1 X-linked Xq26 SHFM2. Cytogenetic analysis sporadic SHSF patients linkage studies in extended pedigrees both suggest more than one exists. We report novel suggested stillborn infant...
Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal this paper is to investigate congenital anomalies the kidney and urinary tract (CAKUT) genital defects (GD) in patients with variants.
Abstract We present three live‐born infants with tetraploidy and compare them two previously reported the same genetic defect. Common anomalies noted included microcephaly; a prominent, narrow forehead; microphthalmia/anophthalmia; cleft palate; orthopedic anomalies; genital ambiguity; abnormalities of central nervous system, including pituitary hypoplasia. Together these constitute rather characteristic phenotype. An error in cytoplasmic cleavage is theorized to be mechanism for chromosome...
Abstract Noonan syndrome is an autosomal dominant disorder with estimated incidence of 1 in 1,000 to 2,500 live births. It characterized by postnatal‐onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities. Gain‐of‐function mutations the PTPN11 , KRAS SOS1 RAF1 genes that are components RAS/MEPK signaling pathway identified about 70–85% individuals syndrome. We report here a case duplication...
Genetically determined prolongation of the QT interval on ECGs has been proposed as one basic pathogenetic mechanism for sudden infant death syndrome (SIDS). ECG studies in a total 108 first-degree relatives 26 patients with this comparison 99 such subjects from 22 control families failed to show any significant differences these two groups. Hereditary is therefore unlikely be factor etiology vast majority cases SIDS.
Abstract We describe a live‐born male with 47,XY, + 22. He had multiple congenital anomalies, severe growth retardation and psychomotor delay. Physical manifestations included broad nasal bridge, epicanthic folds, micrognathia, long philtrum, cleft palate, microcephaly prominent occiput, apparently low‐set malformed ears, heart murmur, genital anomaly, clinodactyly of the fifth fingers, low total finger ridge count. died just before his 3rd birthday. Chromosome analysis by banding techniques...
We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in newborn girl with low birth weight, growth retardation, and tetralogy Fallot. The other 10-month-old developmental delay, craniosynostosis, plagiocephaly, an inv dup 1p34.1p31. Although, these patients have manifestations common previous cases, they do not establish syndrome. Interestingly, all males spanning 1p31 had genital anomalies, whereas females the same region normal genitalia....