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Joubert Syndrome.
Glass IA, Dempsey JC, Parisi M, Doherty D. Glass IA, et al. 2003 Jul 9 [updated 2026 Feb 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2003 Jul 9 [updated 2026 Feb 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301500 Free Books & Documents. Review.
Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell Carcinoma.
Ueda S, Goto M, Hashimoto K, Imazawa M, Takahashi M, Oh-Iwa I, Shimozato K, Nagao T, Nomoto S. Ueda S, et al. Anticancer Res. 2021 Feb;41(2):765-772. doi: 10.21873/anticanres.14828. Anticancer Res. 2021. PMID: 33517281
The expression of CPLANE1 in normal and oral cancer tissues was analyzed using the Gene Expression database of Normal and Tumor tissues. ...Furthermore, we developed a screening test for OSCC using CPLANE1 and showed that it had good accuracy. CONCLUSION: Salivary …
The expression of CPLANE1 in normal and oral cancer tissues was analyzed using the Gene Expression database of Normal and Tumor tissu …
Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome.
Wang H, Nie W, Wang C, Wang Z, Zheng Y. Wang H, et al. Open Life Sci. 2023 Feb 1;18(1):20220542. doi: 10.1515/biol-2022-0542. eCollection 2023. Open Life Sci. 2023. PMID: 36789003 Free PMC article.
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. ...The JBTS patient with mutations in CPLANE1 …
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of …
The primary cilium gene CPLANE1 is required for peripheral nervous system development.
Yusifov E, Schaettin M, Dumoulin A, Bachmann-Gagescu R, Stoeckli ET. Yusifov E, et al. Dev Biol. 2025 Mar;519:106-121. doi: 10.1016/j.ydbio.2024.12.008. Epub 2024 Dec 16. Dev Biol. 2025. PMID: 39694173 Free article.
In line with phenotypes seen in patients, the absence of a functional primary cilium was shown to affect the migration of cranial and vagal neural crest cells, which contribute to the development of craniofacial features and the heart, respectively. We show here that the ciliopat …
In line with phenotypes seen in patients, the absence of a functional primary cilium was shown to affect the migration of cranial and vagal …
High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses.
Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D. Bozhinovski G, et al. Balkan Med J. 2024 Mar 1;41(2):97-104. doi: 10.4274/balkanmedj.galenos.2024.2023-10-72. Epub 2024 Feb 14. Balkan Med J. 2024. PMID: 38351681 Free PMC article.
In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1-related Joubert syndrome (JS) in three EPLs from two couples and identified a relatively common CPLANE1 allele among our population (NM_001384732.1:c.181 …
In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of CPLANE1-related Joubert synd …
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.
Martínez-Granero F, Martínez-Cayuelas E, Rodilla C, Núñez-Moreno G, Rodríguez de Alba M, Blanco-Kelly F, Romero R, Minguez P, Ayuso C, Lorda-Sanchez I, Corton M, Almoguera B. Martínez-Granero F, et al. Clin Genet. 2023 Apr;103(4):448-452. doi: 10.1111/cge.14306. Epub 2023 Feb 8. Clin Genet. 2023. PMID: 36719180
To date, 40 JS-causing genes have been reported and CPLANE1 is one of the most frequently mutated, with biallelic pathogenic missense and truncating variants explaining up to 14% of JS cases. We present a case of JS diagnosed after the identification of a novel biallelic i …
To date, 40 JS-causing genes have been reported and CPLANE1 is one of the most frequently mutated, with biallelic pathogenic missense …
Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M. Hong Z, et al. J Cell Mol Med. 2025 Mar;29(5):e70484. doi: 10.1111/jcmm.70484. J Cell Mol Med. 2025. PMID: 40074699 Free PMC article.
Whole-exome sequencing (WES) identified compound heterozygous variants in CPLANE1: c.8893C>T (p.Gln2965*) and c.203C>T (p.Thr68Ile). Sanger sequencing confirmed the variants in the family. ...Based on these findings and ACMG guidelines, the c.203C>T variant was re …
Whole-exome sequencing (WES) identified compound heterozygous variants in CPLANE1: c.8893C>T (p.Gln2965*) and c.203C>T (p.Thr68 …
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
Qin Y, Yao Y, Liu N, Wang B, Liu L, Li H, Gao T, Xu R, Wang X, Zhang F, Song J. Qin Y, et al. BMC Med Genomics. 2023 Oct 25;16(1):262. doi: 10.1186/s12920-023-01697-3. BMC Med Genomics. 2023. PMID: 37880672 Free PMC article.
Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified …
Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, T …
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C, Sun Z, Xu L, Che F, Liu S. Zhang C, et al. Int J Dev Neurosci. 2021 Oct;81(6):529-538. doi: 10.1002/jdn.10135. Epub 2021 Jun 25. Int J Dev Neurosci. 2021. PMID: 34091942
WES revealed two novel compound heterozygous variants in CPLANE1: c.1270C>T (p.Arg424*) in exon 10 and c.8901C>A (p.Tyr2967*) in exon 48 of one child, inherited from each parent. ...The newly discovered variants expand the mutation spectrum of CPLANE1, which a …
WES revealed two novel compound heterozygous variants in CPLANE1: c.1270C>T (p.Arg424*) in exon 10 and c.8901C>A (p.Tyr2967*) i …
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
Fei H, Wu Y, Wang Y, Zhang J. Fei H, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1877. doi: 10.1002/mgg3.1877. Epub 2022 Jan 29. Mol Genet Genomic Med. 2022. PMID: 35092359 Free PMC article.
Sanger sequencing was used to verify the variants. cDNA PCR products were analyzed and functional experiments were performed to determine the pathogenicity of the variants. RESULTS: The clinical phenotypes and CPLANE1 variants in the JS patient were analyzed and proved con …
Sanger sequencing was used to verify the variants. cDNA PCR products were analyzed and functional experiments were performed to determine th …
64 results