CACNa1F ELISA kit
- Known as:
- CACNa1F Enzyme-linked immunosorbent assay test reagent
- Catalog number:
- DL-CACNa1F-Mu
- Product Quantity:
- 96T
- Category:
- Elisa Kits
- Supplier:
- WDSTD
- Gene target:
- CACNa1F ELISA kit
Related genes to: CACNa1F ELISA kit
- Gene:
- CACNA1F NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 F
- Previous symbol:
- CSNB2, AIED
- Synonyms:
- Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2
- Chromosome:
- Xp11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1997-04-21
- Date modifiied:
- 2016-02-04
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- Advances in DNA sequencing technology are increasing the rate of molecular diagnosis for patients and families with inherited Mendelian diseases. However, some patients remain unsolved following standard-of-care testing (typically either exome or genome sequencing), with structural variants (SVs) likely to account for a significant proportion of these missed diagnoses. We re-analysed ten research cases with the visual disorder foveal hypoplasia (FH) that were previously unsolved through whole exome sequencing (WES). We used SVRare, a tool that integrates outputs from Canvas and Manta and combines these with allele frequencies and information regarding their genomic context to highlight plausible pathogenic SVs. This analysis solved 2/10 cases. Expanding this strategy, we then used SVRare in a reverse genetics approach to analyse an FH-relevant gene panel in the 100,000 Genomes Project (100KGP) rare disease cohort. This identified potentially pathogenic SVs as the cause of disease in a further 11 previously unsolved cases with phenotypes overlapping FH. In total, 11 SVs in five genes were identified as the likely cause of FH in 13 patients: SLC38A8 (1 patient), PAX6 (3), OCA2 (3), GPR143 (5) and CACNA1F (1). This analysis also identified multiple carriers of an apparently novel deletion in OCA2. However, further analysis suggested that this is, in fact, the relatively common founder variant responsible for oculocutaneous albinism (OCA) in African populations, first identified over 30 years ago. These findings show that SVRare effectively identifies deleterious SVs and illustrates the challenges in reporting SVs, including the importance of accurate and consistent reporting of such variants. - Source: PubMed
Publication date: 2026/07/20
Derar Mohammed A MYu JingWatson Christopher MMcKibbin MartinBell Sandra MInglehearn Chris FToomes Carmel - Hereditary optic atrophy is characterized by degeneration of retinal ganglion cells and may result from a wide range of genetic etiologies. While pathogenic variants in OPA1 and primary mitochondrial variants causing Leber hereditary optic neuropathy (LHON) account for a substantial proportion of cases, many patients remain genetically unsolved. We evaluated the diagnostic yield and clinical impact of comprehensive whole exome/genome sequencing (WES/WGS)-based virtual panel testing in 62 partially pre-screened individuals with suspected hereditary optic atrophy. A total of 51 genes associated with optic atrophy and mitochondrial DNA variants were analyzed. Clinical data were systematically retrieved from medical records, including information on extraocular manifestations. A genetic diagnosis was established in 21 patients (33.9%). Pathogenic or likely pathogenic variants in OPA1 accounted for 57.1% of solved cases, whereas 42.9% involved other genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2. In the majority of patients with non-OPA1 findings, the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention. Our findings demonstrate that broad WES/WGS-based testing increases diagnostic yield and expands the genetic spectrum beyond OPA1 and LHON, frequently revealing syndromic conditions with direct clinical implications. Comprehensive genomic testing with broader gene panels should therefore be considered part of the diagnostic workup when hereditary optic atrophy is suspected. - Source: PubMed
Publication date: 2026/06/27
Johannesen Katrine MGrønskov KarenKessel LineHolstein Sarah Linea vonMøller Lisbeth BirkAndersen Mette Kjøbæk GundestrupKhinchi Marianne SøndergaardHamann SteffenWegener MarianneBertelsen Mette - Congenital stationary night blindness (CSNB) is a rare, genetically and clinically heterogeneous group of non-progressive inherited retinal diseases characterized by night blindness, myopia, nystagmus, and decreased visual acuity, for which comprehensive genetic characterization remains essential to enable accurate diagnosis and future gene therapy development. In this study, we performed a clinical and genetic analysis of twenty-one Polish families diagnosed with CSNB using next-generation sequencing (NGS)-based targeted gene panels and, in one case, whole-exome sequencing (WES), complemented by Sanger sequencing for variant validation and segregation analysis. Pathogenic variants were identified in six genes: and were the most frequently affected (six families each), followed by (three families), , , and (two families each). The complete Schubert-Bornschein form predominated in our cohort, in contrast to previous reports indicating higher prevalence of the incomplete form. Notably, ten previously unreported variants were identified in , , and , expanding the known mutational spectrum of CSNB. Certain variants appear enriched in the Polish population. These findings underscore the value of NGS-based approaches for precise molecular diagnosis of CSNB and contribute to the broader understanding of its genetic architecture. - Source: PubMed
Publication date: 2026/05/28
Kuszel LukaszWawrocka AnnaWalczak-Sztulpa JoannaSkorczyk-Werner AnnaKrawczynski Maciej R - The X chromosome contributes to important adaptive and fitness-related traits in livestock, but it has received relatively limited attention in sheep genomics, particularly in studies of indigenous Indian breeds. - Source: PubMed
Publication date: 2026/05/19
Nath SapnaIlla Satish KumarYata Vinod KumarShukla RishikeshKolliputi Narasaiah - To identify pathogenic variants in families with congenital stationary night blindness (CSNB) accompanied by early-onset high myopia (eoHM) using whole-exome sequencing (WES), and to evaluate the clinical value of electrophysiological and genetic testing for the differential diagnosis of CSNB, which is frequently misdiagnosed as amblyopia. - Source: PubMed
Publication date: 2026/06/18
Qi RuiZhou QiMa Mei-JiaoLian Yuan-YuanRong Wei-NingSheng Xun-Lun