Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Neurology"
DOI: 10.1002/ana.78014
Abstract: SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a… read more here.
Keywords: ataxia; biallelic truncating; truncating variants; scn3b encoding ... See more keywords
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23950
Abstract: Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower‐extremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly… read more here.
Keywords: truncating variants; hereditary spastic; onset nonsyndromic; spastic paraplegia ... See more keywords
Genotype-phenotype correlation in pseudoxanthoma elasticum.
Sign Up to like & getrecommendations! Published in 2021 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2021.03.012
Abstract: BACKGROUND AND AIMS Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association… read more here.
Keywords: truncating variants; genotype phenotype; pseudoxanthoma elasticum; genotype ... See more keywords
De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
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DOI: 10.1038/s41436-018-0014-8
Abstract: PurposeWolf–Hirschhorn syndrome (WHS) is a genomic disorder with a recognizable dysmorphology profile caused by hemizygosity at 4p16.3. Previous attempts have failed to map the minimal critical locus to a single gene, leaving open the possibility… read more here.
Keywords: phenotype; truncating variants; microdeletion syndrome; microdeletion ... See more keywords
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0143-0
Abstract: PurposeDevelopmental and epileptic encephalopathies (DEEs) are severe clinical conditions characterized by stagnation or decline of cognitive and behavioral abilities preceded, accompanied or followed by seizures. Because DEEs are clinically and genetically heterogeneous, next-generation sequencing, especially… read more here.
Keywords: truncating variants; variants intronless; irf2bpl responsible; novo truncating ... See more keywords
Survival analysis in arrhythmogenic/dilated cardiomyopathy caused by pathogenic DSP truncating variants
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DOI: 10.1093/ehjci/ehaa946.2040
Abstract: Desmoplakin (DSP) truncating variants have been associated with arrhythmogenic cardiomyopathy (ACM), which can exclusively affect the left ventricle up to 30% of the cases. Nonetheless, data on prognosis in carriers is still limited. To evaluate… read more here.
Keywords: truncating variants; death; pathogenic dsp; dilated cardiomyopathy ... See more keywords
Genotype-phenotype relationship in hypertrophic cardiomyopathy
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DOI: 10.1093/eurheartj/ehae666.2050
Abstract: Hypertrophic cardiomyopathy (HCM) is an inherited highly heterogeneous disease with variable penetrance and expression, but the exact relationship between the underlying genetic cause and the clinical course remains elusive. The aim of our study was… read more here.
Keywords: median age; truncating variants; hcm; hypertrophic cardiomyopathy ... See more keywords
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000395
Abstract: Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from… read more here.
Keywords: two novel; novel truncating; truncating variants; aspm gene ... See more keywords
Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
Sign Up to like & getrecommendations! Published in 2022 at "BMC Medical Genomics"
DOI: 10.1186/s12920-022-01201-3
Abstract: Background Mutations in the MYO15A gene are a widely recognized cause of autosomal recessive non-syndromic sensorineural hearing loss (NSHL) globally. Here, we examined the role and the genotype–phenotype correlation of MYO15A variants in a cohort… read more here.
Keywords: hearing loss; myo15a variants; truncating variants;
The different clinical facets of SYN1-related neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.1019715
Abstract: Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the clinical and molecular… read more here.
Keywords: neurodevelopmental disorders; syn1 related; syn1 variants; truncating variants ... See more keywords
Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses
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DOI: 10.3389/fgene.2019.00835
Abstract: Polyhydramnios is sometimes associated with genetic defects. However, establishing an accurate diagnosis and pinpointing the precise genetic cause of polyhydramnios in any given case represents a major challenge because it is known to occur in… read more here.
Keywords: truncating variants; variants lmod3; successive fetuses; two successive ... See more keywords