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Novel Reassortants of Oropouche Virus (OROV) Are Causing Maternal-Fetal Infection During Pregnancy, Stillbirth, Congenital Microcephaly and Malformation Syndromes.
Genes (Basel)
January 2025
Perinatal Pathology Consulting, 490 Dogwood Valley Drive, Atlanta, GA 30342, USA.
Oropouche virus (OROV) is an orthobunyavirus endemic in the Brazilian Amazon that has caused numerous outbreaks of febrile disease since its discovery in 1955. During 2024, Oropouche fever spread from the endemic regions of Brazil into non-endemic areas and other Latin American and Caribbean countries, resulting in 13,014 confirmed infections. Similarly to other orthobunyaviruses, OROV can undergo genetic reassortment events with itself as well as other viruses.
View Article and Find Full Text PDFHepatic manifestations in VPS53-related pontocerebellar hypoplasia type 2E: a case report.
Eur J Med Genet
January 2025
APHM, Timone Enfant, Service de pédiatrie multidisciplinaire, Marseille France; Aix Marseille Univ, INSERM, MMG, Marseille France.
Pathogenic variants in VPS53 are associated with pontocerebellar hypoplasia type 2E (PCH2E), characterized by microcephaly, severe neurodevelopmental impairment and epilepsy. We present a case of a female neonate with VPS53 pathogenic variants exhibiting the classic phenotypic features along with liver disease and deafness, which had not been described in previously reported cases. Similarly, while liver abnormalities have been reported in patients with mutations in other genes coding for proteins of the GARP or EARP complex, of which VPS53 is a subunit, liver disease has not been described in PCH2E until now.
View Article and Find Full Text PDFRHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Taihe County People's Hospital, Fuyang, Anhui, China.
Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho-related BTB domain-containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early-onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. More than half of the variants are located at Arg483 and Arg511 within the BTB domain; however, the underlying mechanism of action of these hotspot variants remains unexplored.
View Article and Find Full Text PDFInferior sectoral chorioretinopathy in two patients with novel heterozygous mutations.
Ophthalmic Genet
January 2025
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
[Genetic analysis of a Chinese pedigree with rare mosaic 11q partial duplication and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
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