ABSTRACT: Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
Project description:We identified a missense variant in PSMD12 gene, recently associated to an emerging syndromic form of NDD, in a patient with intellectual disability/speech delay, congenital anomalies and facial dysmorphisms. The variant described herein is useful to expand the molecular spectrum of heterozygous PSMD12 mutations and to provide insight into the molecular pathogenesis of this new condition since it is, to the best of our knowledge, the first missense substitution to date reported in medical literature. Finally, our patient is the one with the most detailed dysmorphic characterization and for this reason useful to start defining a typical facial gestalt that addresses the diagnosis.
Project description:Rapidly and Reconditely Progressing Small Cell Lung Cancer with Invasive Pulmonary Aspergillosis: A Case Report and Literature Review
| PRJEB44259 | ENA
Project description:Fungal keratitis caused by Colletotrichum dematium – case study and review of literature
| PRJEB28126 | ENA
Project description:First detection in Helicobacter suis of a mutation conferring resistance to clarithromycin in Helicobacter pylori: case report and review of the literature
| PRJNA554557 | ENA
Project description:Are virulence and therapeutic efficacy of Catabacter hongkongensis bacteremias associated to phylogeny ? Case report of a French patient and review of the literature.
Project description:Haploinsufficiency of the Euchromatin histone methyltransferase 1 (EHMT1) gene leads to Kleefstra Syndrome, a rare disease characterised by moderate to severe developmental delay/intellectual disability, childhood hypotonia and distinct facial features, comprising microcephaly. This study examines the genetic variant EHMT1_Ter (p.[Tyr1148=];[Tyr1148Leufs*9]) in HEK293 cells.
