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Anaesthetic management of a child with suspected Opitz-Kaveggia syndrome.
Indian J Anaesth
October 2024
Department of Anaesthesiology, AIIMS, Bathinda, Punjab, India.
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Am J Med Genet A
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Article Synopsis
- * Various MED12-related disorders show distinct patterns based on gender, affecting males and females differently, and involve conditions like Opitz-Kaveggia syndrome and Hardikar syndrome.
- * Recent findings from genetic studies reveal new variants of the MED12 gene that could link it to congenital diaphragmatic hernia in females, suggesting more complex genetic contributions to these disorders than previously thought.
Novel characterization of variant through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.
Case Rep Womens Health
March 2024
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, 376 East Main Street, Suite 202, Bay Shore, New York 11706, United States of America.
Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined. In this case report, a 38-year-old Hispanic woman, G5P3013, with a monochorionic diamniotic twin gestation with one fetus displaying significant cranial abnormalities on prenatal ultrasound and magnetic resonance imaging (MRI) of the brain is presented. Fetal anomalies included bilateral ventriculomegaly, absent cavum septum pellucidum, and absent corpus callosum.
View Article and Find Full Text PDFA novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
August 2023
Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain.
We report a 9-year-old Spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalities of the brain morphology, including cerebellar atrophy. Whole-exome sequencing (WES) uncovered two novel de novo variants, a hemizygous variant in CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) and a heterozygous variant in EEF2 (Eukaryotic Translation Elongation Factor 2). CASK gene encodes the peripheral plasma membrane protein CASK that is a scaffold protein located at the synapses in the brain.
View Article and Find Full Text PDFMissense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
January 2023
Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well-known syndromes: Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.
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