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Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
IFT140 is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entry of membrane proteins; bi-allelic IFT140 variants cause the syndromic ciliopathy, short-rib thoracic dysplasia (SRTD9). ...The proxi …
IFT140 is a core component of the intraflagellar transport-complex A, responsible for retrograde ciliary trafficking and ciliary entr …
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
Chang AR, Moore BS, Luo JZ, Sartori G, Fang B, Jacobs S, Abdalla Y, Taher M, Carey DJ, Triffo WJ, Singh G, Mirshahi T. Chang AR, et al. JAMA. 2022 Dec 27;328(24):2412-2421. doi: 10.1001/jama.2022.22847. JAMA. 2022. PMID: 36573973 Free PMC article.
EXPOSURES: Loss-of-function (LOF) variants in PKD1, PKD2, and other genes associated with cystic kidney disease (ie, ALG8, ALG9, DNAJB11, GANAB, HNF1B, IFT140, SEC61B, PKHD1, PRKCSH, SEC63); likely pathogenic missense variants in PKD1 and PKD2. ...In addition to PKD1 and P …
EXPOSURES: Loss-of-function (LOF) variants in PKD1, PKD2, and other genes associated with cystic kidney disease (ie, ALG8, ALG9, DNAJB11, GA …
UBL7 is indispensable for spermiogenesis through protecting critical factors from excessive degradation by proteasomes.
Yuan T, Yang J, Xu D, Li H, Min W, Wang F. Yuan T, et al. Nat Commun. 2025 Apr 23;16(1):3803. doi: 10.1038/s41467-025-59209-z. Nat Commun. 2025. PMID: 40268954 Free PMC article.
Through a two-step immunoprecipitation method, we identify several essential factors in spermatids that are protected by UBL7, including factors involved in the development of manchette (such as IFT140), head-tail coupling apparatus (such as SPATA20) and cytoplasmic drople …
Through a two-step immunoprecipitation method, we identify several essential factors in spermatids that are protected by UBL7, including fac …
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S. Zobor D, et al. Int J Mol Sci. 2023 May 17;24(10):8915. doi: 10.3390/ijms24108915. Int J Mol Sci. 2023. PMID: 37240262 Free PMC article.
The genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 (13%), AIPL1 (6%), TULP1 (6%), and IQCB1 (5%), and few cases harbored pathogenic variants in LRAT, CABP4, NMNAT1, RPGRIP1, SPATA7, CRX, IFT140, LCA5, and RD3 (altog …
The genetic spectrum displayed variants in the following genes: CEP290 (21%), CRB1 (21%), RPE65 (14%), RDH12 (13%), AIPL1 (6%), TULP1 (6%), …
Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
Koce M, Fakin A, Markelj Š, Debeljak M, Kovač J, Lisec A, Bertok S, Meglič A. Koce M, et al. Ophthalmic Genet. 2025 Jun;46(3):285-292. doi: 10.1080/13816810.2025.2462987. Epub 2025 Feb 10. Ophthalmic Genet. 2025. PMID: 39927556 Review.
BACKGROUND: The IFT140 gene is one of many genes involved in the synthesis of proteins needed for cilium function. ...CASES PRESENTATION: We present two cases: Case 1, a male with two pathological variations in IFT140 gene, a compound heterozygote, with kidney failu …
BACKGROUND: The IFT140 gene is one of many genes involved in the synthesis of proteins needed for cilium function. ...CASES PRESENTAT …
Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies.
Kaler A, Lal V, Kumar V, Gulhar S, Couser N. Kaler A, et al. J AAPOS. 2025 Aug;29(4):104281. doi: 10.1016/j.jaapos.2025.104281. Epub 2025 Aug 6. J AAPOS. 2025. PMID: 40774504
IFT140-related recessive ciliopathy is associated with variants in the IFT140 gene and encompasses a syndromic phenotype or a purely ocular phenotype. ...Cataracts and lens opacities are more common in ocular-only IFT140-related recessive ciliopathy, whereas …
IFT140-related recessive ciliopathy is associated with variants in the IFT140 gene and encompasses a syndromic phenotype or a …
Phenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
Akhtar Z, Altaf S, Li Y, Bibi S, Shah J, Afshan K, Wang M, Hussain HMJ, Qureshi N, Chen R, Firasat S. Akhtar Z, et al. Genes (Basel). 2024 Dec 21;15(12):1646. doi: 10.3390/genes15121646. Genes (Basel). 2024. PMID: 39766915 Free PMC article.
RESULTS: Data analysis revealed a total of eight reported (c.316C>T and c.506G>A in RDH12; c.864dup and c.1012C>T in SPATA7, as well as c.1459T>C, c.1062_1068del, c.1495+1G>A, c.998G>A in the CRB1, LCA5, TULP1, and IFT140 genes, respectively) and four nov …
RESULTS: Data analysis revealed a total of eight reported (c.316C>T and c.506G>A in RDH12; c.864dup and c.1012C>T in SPATA7, as wel …
Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts.
Cristalli CP, Calabrese S, Caramanna L, Pietra A, Vitetta G, De Nicolo B, Bonora E, Severi G, Menabò S, Ferrari S, Ciurli F, Aiello V, Capelli I, Pasini A, Alberici I, Pillon R, La Scola C, Rossi C, Montanari F, Graziano C. Cristalli CP, et al. Genes (Basel). 2025 Apr 22;16(5):472. doi: 10.3390/genes16050472. Genes (Basel). 2025. PMID: 40428294 Free PMC article.
Remarkably, a pathogenic variant in the IFT140 gene was identified in 14 index cases (8% of positive individuals, 6.4% of the global cohort): 10 distinct loss-of-function (LoF) variants were identified (including four frameshift variants, four nonsense variants, and two sp …
Remarkably, a pathogenic variant in the IFT140 gene was identified in 14 index cases (8% of positive individuals, 6.4% of the global …
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group. Zagorec N, et al. Am J Kidney Dis. 2025 Apr;85(4):465-476.e1. doi: 10.1053/j.ajkd.2024.10.009. Epub 2024 Dec 26. Am J Kidney Dis. 2025. PMID: 39732359 Free article.
SETTING & PARTICIPANTS: Seventy-five among 2,797 European individuals with ADPKD-like phenotypes who underwent genetic testing that revealed pLoF IFT140-variants. FINDINGS: The 75 individuals (median age 56 years, 53.3% females) were from 61 families and were found to …
SETTING & PARTICIPANTS: Seventy-five among 2,797 European individuals with ADPKD-like phenotypes who underwent genetic testing that reve …
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.
Varughese S, Huang M, Savige J. Varughese S, et al. Nephrol Dial Transplant. 2026 Jan 30;41(2):286-296. doi: 10.1093/ndt/gfaf158. Nephrol Dial Transplant. 2026. PMID: 40810452 Free PMC article.
We hypothesized that more accurate population frequencies for typical (PKD1, PKD2) and atypical (GANAB, ALG9, DNAJB11 ALG5, IFT140, NEK8) ADPKD were possible using a computational approach. METHODS: Initially, this study calculated the number of predicted pathogenic struct …
We hypothesized that more accurate population frequencies for typical (PKD1, PKD2) and atypical (GANAB, ALG9, DNAJB11 ALG5, IFT140, N …
59 results