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2019 (v1)PublicationUploaded on: April 14, 2023
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2020 (v1)Publication
Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the...
Uploaded on: March 27, 2023 -
2024 (v1)Publication
: Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS). Here we identify nine additional subjects, from seven unrelated families, harboring different homozygous LoF...
Uploaded on: February 14, 2024 -
2022 (v1)PublicationGenotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the...
Uploaded on: February 14, 2024 -
2019 (v1)Publication
Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell adhesion molecules of the immunoglobulin superfamily including neurofascin, encoded by the NFASC gene, and its alternative isoforms Nfasc186 and...
Uploaded on: April 14, 2023 -
2022 (v1)Publication
The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.
Uploaded on: February 14, 2024 -
2021 (v1)Publication
Trafficking protein particle (TRAPP) complexes, which include the TRAPPC4 protein, regulate membrane trafficking between lipid organelles in a process termed vesicular tethering. TRAPPC4 was recently implicated in a recessive neurodevelopmental condition in four unrelated families due to a shared c.454+3A>G splice variant. Here, we report 23...
Uploaded on: February 4, 2024 -
2023 (v1)Publication
: Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with "Pitt-Hopkins-like syndrome-1" (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We...
Uploaded on: February 11, 2024 -
2019 (v1)Publication
Recently, a novel syndrome of combined immunodeficiency, allergy, and "auto"inflammation caused by mutations in the ARPC1B gene has been reported. Analysis of patient-derived hematopoietic cells has shown a defect in actin polymerization, which resulted in a wide range of clinical manifestations and immunologic-hematologic features. We report...
Uploaded on: April 14, 2023 -
2022 (v1)Publication
Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental and epileptic encephalopathy. However, so far, only two affected individuals have been described...
Uploaded on: February 7, 2024