Joubert Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
ConclusionsThe genetic variation spectrum of JS caused byCPLANE1 was updated. Two novel variants further deepened our insight into the disease's molecular mechanism and confirmed the significance of diagnostic whole-exome sequencing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2022 Category: Genetics & Stem Cells Authors: Hongjun Fei, Yi Wu, Yanlin Wang, Junyu Zhang Tags: ORIGINAL ARTICLE Source Type: research

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
Conclusions The Chinese Children Genetic Kidney Disease Database registry characterised the spectrum of the phenotype and genotype of NPHP-RC in the Chinese population. NPHP1 and NPHP3 were the most common pathogenic genes. Rapid progression to ESRD and liver involvement were noted in patients with NPHP3 mutations. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - January 21, 2022 Category: Genetics & Stem Cells Authors: Tang, X., Liu, C., Liu, X., Chen, J., Fan, X., Liu, J., Ma, D., Cao, G., Chen, Z., Xu, D., Zhu, Y., Jiang, X., Cheng, L., Wu, Y., Hou, L., Li, Y., Shao, X., Zheng, S., Zhang, A., Zheng, B., Jian, S., Rong, Z., Su, Q., Gao, X., Rao, J., Shen, Q., Xu, H., C Tags: Genotype-phenotype correlations Source Type: research

Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy
This report expands the clinical variability and molecular characterization of an emerging novel causative gene for Joubert syndrome in a Saudi boy born to non-consanguineous marriage with a c.1418del p.(Pro473Leufs*42) and c.800A > G p.(Tyr267Cys) representing a novel compound heterozygous variant of the TCTN1 gene identified by whole-exome sequencing and confirmed by Sanger sequencing. (Source: Brain and Development)
Source: Brain and Development - December 31, 2021 Category: Neurology Authors: Bader H. Shirah, Nahla M. Alshaikh, Ayman Shawli, Muhammad Imran Naseer Tags: Case Report Source Type: research

Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing
This study highlights that the diagnostic yield of NGS-based targeted panels is strictly related to the accuracy of the diagnostic referral based on clinical and imaging assessment and that WES has an advantage over targeted panel analysis when the diagnostic suspicion is not straightforward.PMID:34846692 | DOI:10.1007/s12311-021-01350-8 (Source: Cerebellum)
Source: Cerebellum - November 30, 2021 Category: Neuroscience Authors: Fulvio D'Abrusco Filippo Arrigoni Valentina Serpieri Romina Romaniello Caterina Caputi Filippo Manti Bosanka Jocic-Jakubi Elisabetta Lucarelli Elena Panzeri Maria Clara Bonaglia Luisa Chiapparini Anna Pichiecchio Lorenzo Pinelli Andrea Righini Vincenzo Le Source Type: research

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
Conclusion: We report 2 cases of Meckel syndrome with a novel variant and multiexon deletion, and 1 case of Joubert syndrome which depicts the limitations of preconceptional carrier screening in ciliopathies due to overlapping phenotypes.PMID:34821546 | DOI:10.1080/15513815.2021.2007434 (Source: Fetal and Pediatric Pathology)
Source: Fetal and Pediatric Pathology - November 25, 2021 Category: Pathology Authors: Somya Srivastava Rani Manisha Aradhana Dwivedi Harshita Agarwal Deepti Saxena Vinita Agrawal Kausik Mandal Source Type: research

Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation
Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, Joubert syndrome (JS), and JS-related disorders (JSRD) with additional organ involvement including oral-facial-digital syndrome and so on. They often share common and unexpected phenotypic features. (Source: Brain and Development)
Source: Brain and Development - November 5, 2021 Category: Neurology Authors: Hiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, Sozo Okano, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato Tags: Case Report Source Type: research

xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology
Curr Biol. 2021 Oct 27:S0960-9822(21)01416-0. doi: 10.1016/j.cub.2021.10.027. Online ahead of print.ABSTRACTPrimary cilia are microtubule (MT)-based organelles that mediate sensory functions in multiple cell types. Disruption of cilia structure or function leads to a diverse collection of diseases termed ciliopathies.1-3 The highly conserved CCRK and RCK kinases (ICK/MOK/MAK) negatively regulate cilia length and structure in Chlamydomonas, C. elegans, and mammalian cells.4-10 How the activity of this kinase cascade is tuned to precisely regulate cilia architecture is unclear. Mutations in the Domain of Unknown Function 371...
Source: Current Biology - November 3, 2021 Category: Biology Authors: Ashish K Maurya Piali Sengupta Source Type: research