DEGS1 variant causes neurological disorder
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0444-z
Abstract: Sphingolipidoses are monogenic lipid storage diseases caused by variants in enzymes of lipid synthesis and metabolism. We describe an autosomal recessive complex neurological disorder affecting consanguineous kindred. All four affected individuals, born at term following… read more here.
Keywords: neurological disorder; causes neurological; disorder; affected individuals ... See more keywords
NEMO splice variant causes distinct autoinflammatory syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Nature Reviews Rheumatology"
DOI: 10.1038/s41584-022-00782-8
Abstract: New research has identified an autoinflammatory syndrome caused by mutations in NEMO-encoding IKBKG, leading to NF-κB activation and type I interferon production. read more here.
Keywords: variant causes; splice variant; causes distinct; nemo splice ... See more keywords
The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice
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DOI: 10.1038/s41598-025-92511-w
Abstract: Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of such… read more here.
Keywords: function ube3aq588e; gain function; function; angelman like ... See more keywords
Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype
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DOI: 10.1111/cge.14166
Abstract: The biallelic variations of the LNPK gene are associated with the “neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum” phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two… read more here.
Keywords: novel lnpk; lnpk variant; lnpk; phenotype ... See more keywords
PSMC1 variant causes a novel neurological syndrome
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DOI: 10.1111/cge.14195
Abstract: Proteasome 26S, the eukaryotic proteasome, serves as the machinery for cellular protein degradation. It is composed of the 20S core particle and one or two 19S regulatory particles, composed of a base and a lid.… read more here.
Keywords: psmc1; psmc1 variant; variant causes; causes novel ... See more keywords
A Novel TAF1C Missense Variant Causes Neurodevelopmental Regression via Disrupted Nucleolar Localization and Nucleoplasmic Aggregation
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DOI: 10.1111/cge.14771
Abstract: TAF1C (TATA box‐binding protein‐associated factor, RNA polymerase I subunit C) is an essential component of the RNA polymerase I transcription machinery responsible for ribosomal RNA synthesis and nucleolar function. Variants in TAF1C have recently emerged… read more here.
Keywords: taf1c; nucleolar localization; missense variant; variant causes ... See more keywords
Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Haematology"
DOI: 10.1111/ejh.12819
Abstract: To characterize the underlying genetic and molecular defects in a consanguineous family with lifelong blood disorder manifested with thrombocytopenia (low platelets count) and anemia. read more here.
Keywords: g6b gene; causes familial; gene variant; familial autosomal ... See more keywords
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2019-106330
Abstract: Background Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this knowledge… read more here.
Keywords: sod2; homozygous damaging; damaging sod2; dilated cardiomyopathy ... See more keywords
A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2022.1093313
Abstract: Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel, KV2.1, are linked to developmental and epileptic encephalopathies and associated with loss-of-function, -regulation, and -expression of the channel. Here we describe a novel… read more here.
Keywords: function; gain function; variant causes; gain ... See more keywords