7 results match your criteria: "Arnold Palmer Hospital for Children - Orlando Health[Affiliation]"
Benign Intraoral Soft Tissue Lesions in Children.
Oral Maxillofac Surg Clin North Am
August 2024
Arnold Palmer Hospital for Children - Orlando Health, 207 W. Gore Street, 3Road Floor, Suite.302, Orlando, FL 32806, USA.
Benign intraoral soft tissue pathology in pediatric patients includes developmental, traumatic, inflammatory, and infectious lesions. Common pathology includes gingival cysts, mucoceles, fibromas, and parulis. Less common lesions include peripheral ossifying fibromas, congenital epulis of the newborn, and congenital mandibular duct atresia.
View Article and Find Full Text PDFRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
November 2023
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:
Article Synopsis
- Misregulation of histone lysine methylation is linked to various cancers and developmental disorders, with the gene DOT1L playing a crucial role in this process.
- Researchers discovered nine individuals with different mutations in DOT1L, all of whom showed developmental delays and major congenital issues.
- Functional studies in fruit flies and human cells indicated that these mutations are gain-of-function, leading to increased histone methylation and confirming DOT1L's involvement in a genetic disease.
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sci Adv
March 2023
Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.
Article Synopsis
- Pathogenic variants in KMT5B, a lysine methyltransferase, are linked to global developmental issues, macrocephaly, autism, and other congenital anomalies, but the disorder is still not fully understood.
- A study examining 43 patients revealed new significant features like hypotonia and congenital heart defects not previously associated with this condition.
- Research using patient cell lines and KMT5B knockout mice showed that these variants lead to slow growth and highlighted alterations in pathways related to nervous system development, enhancing our understanding of the disorder's molecular mechanisms.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
July 2021
Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Purpose: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of haploinsufficiency.
Methods: Three individuals with intellectual disability and iris anomalies and truncating de novo PRR12 variants were described previously.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
May 2021
Department of Molecular & Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, USA.
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF.
View Article and Find Full Text PDFFurther delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Am J Med Genet A
July 2020
Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.
Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disability syndrome caused by variants in the MED25 gene. While it was originally identified in Brazil, it was further described in Israel by authors who are now the namesake of the condition. A 2018 publication further contributed to its delineation, but the patient's phenotype was complicated by a dual diagnosis.
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