| Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome. | Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
Fei H, Wu Y, Wang Y, Zhang J., Free PMC Article | 06/18/2022 |
| Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants. | Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
Zhang X, Shen Y, Li P, Cai R, Lu C, Li Q, Chen C, Yu Y, Cheng T, Wang X, Luo M, Cao M, Cao Z, Ma X., Free PMC Article | 02/5/2022 |
| Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. | Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Liu Q, Wang H, Zhao J, Liu Z, Sun D, Yuan A, Luo G, Wei W, Hou M. | 10/16/2021 |
| Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell Carcinoma. | 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. | 02/6/2021 |
| The proband with Jouber syndrome of family 2 was found to harbor compound heterozygous variants of the CPLANE1 gene, namely c.7243dupA (p.T2415Nfs*7) and c.8001delG (p.K2667Nfs*31), which can respectively lead to premature termination of translation of ciliogenesis and planar polarity effector 1 after the 2145th and 2667th amino acids | [Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].
Bai Z, Hu S, Liu N, Wu Q, Kong X. | 06/27/2020 |
| JBTS17 contributes to mitotic progression by interacting with LIS1, and abnormal mitosis is an underlying mechanism in JBTS17-related ciliopathies. | Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.
Hong H, Joo K, Park SM, Seo J, Kim MH, Shin E, Cheong HI, Lee JH, Kim J. | 04/4/2020 |
| Seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, were identified in OFD6 patients. | Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. | 12/22/2018 |
| In C5orf42-mutant Joubert syndrome patients, the infratentorial magnetic resonance images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles, normal or minimally deepened interpeduncular fossa, and mild vermian hypoplasia. | Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
Enokizono M, Aida N, Niwa T, Osaka H, Naruto T, Kurosawa K, Ohba C, Suzuki T, Saitsu H, Goto T, Matsumoto N. | 02/24/2018 |
| C5orf42 is one of the causative genes for OFDVI. | Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR., Free PMC Article | 05/21/2016 |
| C5orf42 mutation is associated with Oral-facial-digital syndrome type VI. | Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM., Free PMC Article | 03/7/2015 |
| We identified causal C5orf42 mutations in 9/11 families meeting OFD VI diagnostic criteria, but no mutation in individuals with partly overlapping features. | C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. | 04/12/2014 |
| Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis | Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
Shaheen R, Faqeih E, Alshammari MJ, Swaid A, Al-Gazali L, Mardawi E, Ansari S, Sogaty S, Seidahmed MZ, AlMotairi MI, Farra C, Kurdi W, Al-Rasheed S, Alkuraya FS., Free PMC Article | 11/16/2013 |
| C5orf42 and KIAA1377 gene synergistically play a role as susceptibility genes for monomelic amyotrophy. | Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.
Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK. | 09/29/2012 |
| The data suggested that mutations in C5ORF42 explain a large percentage of French Canadian individuals with Joubert syndrome. | Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V, FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL., Free PMC Article | 06/2/2012 |