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Phenotypic variability in a family with an inherited KAT6A frameshift variant.
Eur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Denmark.
KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #616268) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypotonia and autism spectrum disorders/behavioral problems. Multiple organ-systems including eyes, heart, gastrointestinal and neurological system can be involved. Other phenotypic features with a suggested association to KAT6A include immune dysfunction and pituitary anomalies.
View Article and Find Full Text PDFAn Atypical Manifestation: Linear Hyperkeratotic Prurigo Nodularis.
Cureus
November 2024
Dermatology, Mosaic Dermatology, Houston, USA.
We present the case of a 42-year-old Indian male with prurigo nodularis, exhibiting multiple verrucous, brownish-black nodules on the left lower and right upper extremities, with milder involvement of the right lower extremity. The lesions were asymmetrically distributed in a near-linear pattern, with prominent white hyperkeratosis and associated moderate pruritus and paresthesia. Differential diagnoses included pemphigoid nodularis, verruca vulgaris, and hypertrophic lichen planus, with a biopsy confirming prurigo nodularis.
View Article and Find Full Text PDFSomatic mosaicism in genetic errors of immunity.
J Allergy Clin Immunol
December 2024
Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO 63110. Electronic address:
Genetic mosaicism in somatic cells can lead to the presence of pathogenic variants in a subset of immune cells causing genetic errors of immunity (GEI), often phenocopying germline inborn errors of immunity (IEI). Over the last two decades significant progress has been made in the identification of these disorders in patients, including discovery of new diseases. Diagnosis of disease-causing somatic mosaicism provides a target for treatment and monitoring of patients and has implications for genetic counseling.
View Article and Find Full Text PDFPolyploids broadly generate novel haplotypes from trans-specific variation in Arabidopsis arenosa and Arabidopsis lyrata.
PLoS Genet
December 2024
Department of Botany, Faculty of Science, Charles University, Prague, Czech Republic.
Polyploidy, the result of whole genome duplication (WGD), is widespread across the tree of life and is often associated with speciation and adaptability. It is thought that adaptation in autopolyploids (within-species polyploids) may be facilitated by increased access to genetic variation. This variation may be sourced from gene flow with sister diploids and new access to other tetraploid lineages, as well as from increased mutational targets provided by doubled DNA content.
View Article and Find Full Text PDFA Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.
Am J Med Genet A
December 2024
Department of Internal Medicine, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to parental mosaicism for a deep intronic pathogenic variant at c.
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