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2020 3
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Page 1
Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S. Perrot A, et al. Adv Exp Med Biol. 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. Adv Exp Med Biol. 2024. PMID: 38884729
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CS …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M, Kjellström S, Andréasson S, Öhberg A, Gränse L, Kjellström U. Areblom M, et al. Genes (Basel). 2023 Jul 8;14(7):1413. doi: 10.3390/genes14071413. Genes (Basel). 2023. PMID: 37510321 Free PMC article.
The most prevailing were ABCA4 (16.5%), RPGR (6%), CEP290 (6%), and RS1 (5.5%). Other prevalent genes were CACNA1F (3%), PROM1 (3%), CHM (3%), and NYX (3%). In 7% of the patients there was a discrepancy between the diagnosis made based on phenotypical or genotypical findin …
The most prevailing were ABCA4 (16.5%), RPGR (6%), CEP290 (6%), and RS1 (5.5%). Other prevalent genes were CACNA1F (3%), PROM1 (3%), …
Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
Yang E, Yu J, Liu X, Chu H, Li L. Yang E, et al. Invest Ophthalmol Vis Sci. 2023 May 1;64(5):10. doi: 10.1167/iovs.64.5.10. Invest Ophthalmol Vis Sci. 2023. PMID: 37191617 Free PMC article.
Hemizygous mutations in COL4A5, NYX, and CACNA1F were detected in this study. Inherited retinal disease-associated genes were found in 76.67% (23/30) of families. ...
Hemizygous mutations in COL4A5, NYX, and CACNA1F were detected in this study. Inherited retinal disease-associated genes were found i …
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L. Koschak A, et al. Pflugers Arch. 2021 Sep;473(9):1437-1454. doi: 10.1007/s00424-021-02570-x. Epub 2021 Jul 1. Pflugers Arch. 2021. PMID: 34212239 Free PMC article. Review.
In humans, mutations in the CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital stationary night blindness type 2. Mutations in the Cav1.4 protein result in a spectrum of altered functional …
In humans, mutations in the CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders su …
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M. Katta M, et al. Ophthalmol Retina. 2024 Sep;8(9):932-941. doi: 10.1016/j.oret.2024.03.017. Epub 2024 Mar 24. Ophthalmol Retina. 2024. PMID: 38522615 Free PMC article.
Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging. RESULTS: X-linked (CACNA1F and NYX) and autosomal recessive (TRPM1, GRM6, GPR179 and CABP4) genotypes were identified. ...Complete …
Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner plexiform layer (GCL+IPL) thickness from OCT imaging …
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q. Jiang Y, et al. J Transl Med. 2024 Jan 19;22(1):75. doi: 10.1186/s12967-024-04886-5. J Transl Med. 2024. PMID: 38243264 Free PMC article.
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA …
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome …
Aland Island eye disease in two patients harboring novel CACNA1F variants.
Duemler A, Gao H, Powell J, Iannaccone A, Alekseev O. Duemler A, et al. Ophthalmic Genet. 2025 Oct;46(5):495-498. doi: 10.1080/13816810.2025.2505914. Epub 2025 May 21. Ophthalmic Genet. 2025. PMID: 40400241 Free PMC article.
Genetic testing often cannot distinguish between AIED and CSNB, as many mutations in CACNA1F are known to cause either AIED, CSNB, or conditions with ambiguous phenotypes along the AIED/CSNB continuum. Therefore, it is necessary to expand the landscape of CACNA1F mu …
Genetic testing often cannot distinguish between AIED and CSNB, as many mutations in CACNA1F are known to cause either AIED, CSNB, or …
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H, Hao X, Liu H, Zhang S, Han J, Zhang Y, Liu T, Yang X, Wang H, Fan J, Guan Y, Peng N, Xie J, Xia H, Ji X, Xu Y, Zhang J, Wang J, Lan F, Zhang H, Gu X, He Y. Sun H, et al. EBioMedicine. 2025 Jun;116:105736. doi: 10.1016/j.ebiom.2025.105736. Epub 2025 May 9. EBioMedicine. 2025. PMID: 40347836 Free PMC article.
Gene-level variant burden analysis revealed three X-linked CHD candidate genes: DCX, CACNA1F, and MAP3K15. Autosomal rare variants did not show significant differences in variant burdens between sexes. ...
Gene-level variant burden analysis revealed three X-linked CHD candidate genes: DCX, CACNA1F, and MAP3K15. Autosomal rare variants di …
Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.
Ridgeway AR, Shortall C, Finnegan LK, Long R, Matthews E, Dockery A, Kopčić E, Whelan L, Kirk C, Silvestri G, Turner J, Keegan DJ, Millington-Ward S, Chadderton N, Duignan E, Kenna PF, Farrar GJ. Ridgeway AR, et al. Genes (Basel). 2024 Dec 27;16(1):25. doi: 10.3390/genes16010025. Genes (Basel). 2024. PMID: 39858572 Free PMC article.
This study investigated two novel splice-altering variants, CHM NM_000390.4:c.941-11T>G and CACNA1F NM_005183.4:c.2576+4_2576+5del implicated in choroideremia and cone dystrophy (COD), respectively, resulting in significant visual loss. METHODS: Next-generation sequenci …
This study investigated two novel splice-altering variants, CHM NM_000390.4:c.941-11T>G and CACNA1F NM_005183.4:c.2576+4_2576+5del …
44 results