DNA Methylation Profiling in Kabuki Syndrome: Reclassification of Germline KMT2D VUS and Sensitivity in Validating Postzygotic Mosaicism

Medicine, Pediatrics, Neurology, Life Sciences, Genetics,
Kabuki Syndrome   DNA Methylation   Genetic Mutation   Neurodevelopmental Disorder   Genetics   Mosaicism  

DNA methylation analysis in Kabuki syndrome: reclassification of germline KMT2D variants Background Kabuki syndrome (KS) is a rare multiple congenital anomaly/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements in the KMT2D gene. Although KS is recognizable due to its distinctive facial features, di...

Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort

Medicine, Pediatrics, Psychiatry, Oncology, Cardiovascular System, Life Sciences, Genetics,
Opportunistic Genomic Screening   Familial Uptake   Pediatric Cancer   Medical Actionability   Cascade Testing   Genetic Counseling  

Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...

Identification of the DNA Methylation Signature of Mowat-Wilson Syndrome

Medicine, Pediatrics, Medical Laboratory Science, Neurology, Life Sciences, Biochemistry, Genetics,
Mowat-Wilson Syndrome   ZEB2   DNA Methylation   Neurodevelopmental Disorder   Biomarker   Genetics   Transcription Factor  

DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...

Uncertainties Experienced by Parents of Children Diagnosed with Severe Combined Immunodeficiency Through Newborn Screening

Medicine, Pediatrics, Rheumatology and Immunology, Life Sciences, Immunology, Genetics,
Severe Combined Immunodeficiency   Newborn Screening   Uncertainty   Parental Experience   Healthcare   Emotional Support  

Instant Inclusion: In-depth Analysis of Uncertainties Experienced by Parents of Newborns with Severe Combined Immunodeficiency Research Background Severe Combined Immunodeficiency (SCID) is a rare and potentially fatal genetic disorder. Without timely diagnosis and treatment, patients face life-threatening conditions. In recent years, early identif...

Expanding the Phenotype of Copy Number Variations Involving NR0B1 (DAX1)

Medicine, Pediatrics, Obstetrics and Gynecology, Endocrinology, Life Sciences, Cell Biology, Biochemistry, Genetics,
Copy number variations   Gonadal dysgenesis   NR0B1 gene   DAX1   46,XY disorders of sex development   Chromosomal microarray analysis   Prenatal screening  

This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...