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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.
Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.
Am J Med Genet A
September 2024
Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Ishikawa, Japan.
The phenotypes associated with MED12 pathogenic variants are diverse. Male patients usually have missense variants, but the effects of base substitutions on mRNA splicing have not been investigated. Here, we report a Japanese brother with intellectual disability, characteristic facial appearance with blepharophimosis, cleft palate, Fallot tetralogy, vesicoureteral reflux, and deafness.
View Article and Find Full Text PDFEstablishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene.
Stem Cell Res
June 2024
Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan.
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked Ohdo syndrome is caused by loss of function mutation in MED12 gene on X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation of the MED12 gene were reprogrammed using the CytoTune-iPS2.
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.
View Article and Find Full Text PDFX-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing.
Clin Dysmorphol
April 2022
Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
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