Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals

Medicine, Neurology, Life Sciences, Genetics,
Bryant-Li-Bhoj Syndrome   Phenotypic Spectrum   Neurodevelopmental Disorder   Neurodegenerative Disorder   H3.3  

Many Scientists Discover Expansion of Phenotypic Spectrum in Bryant-Li-Bhoj Syndrome Research Background Bryant-Li-Bhoj Syndrome (BLBS) was classified by OMIM in 2022 (OMIM: 619720, 619721), caused by germline variants in the H3.3 (H3F3A and H3F3B) genes. This syndrome is characterized by developmental delay/intellectual disability, craniofacial an...

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...

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...