CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum [Research Papers]
Joubert syndrome (JS) is a recessive ciliopathy in which all affected individuals have congenital cerebellar vermis hypoplasia. Here, we report that CEP120, a JS-associated protein involved in centriole biogenesis and cilia assembly, regulates timely neuronal differentiation and the departure of granule neuron progenitors (GNPs) from their germinal zone during cerebellar development. Our results show that depletion of Cep120 perturbs GNP cell cycle progression, resulting in a delay of cell cycle exit in vivo. To dissect the potential mechanism, we investigated the association between CEP120 interactome and the JS database ...
Source: Genes and Development - November 1, 2021 Category: Genetics & Stem Cells Authors: Chang, C.-H., Chen, T.-Y., Lu, I.-L., Li, R.-B., Tsai, J.-J., Lin, P.-Y., Tang, T. K. Tags: Research Papers Source Type: research
AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities. AbstractThis point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of m...
Source: Clinical Case Reports - October 23, 2021 Category: General Medicine Authors: Mostafa Neissi,
Hadideh Mabudi,
Javad Mohammadi ‐Asl Tags: CASE REPORT Source Type: research
Genes, Vol. 12, Pages 1648: Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nysta...
Source: Genes - October 20, 2021 Category: Genetics & Stem Cells Authors: Sandy Siegert Gabriel T. Mindler Christof Br ücke Andreas Kranzl Janina Patsch Markus Ritter Andreas R. Janecke Julia Vodopiutz Tags: Article Source Type: research
Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants
Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions. Herein, we reported a Chinese patient carrying a new va... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - October 9, 2021 Category: Genetics & Stem Cells Authors: Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia and Ailian Du Tags: Case report Source Type: research
Fetal ciliopathies: a retrospective observational single-center study
ConclusionPrenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing. (Source: Archives of Gynecology and Obstetrics)
Source: Archives of Gynecology and Obstetrics - October 1, 2021 Category: OBGYN Source Type: research
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74
We reported a 15-month-old female with dysmorphic features (flat nasal bridge, almond-shaped eye, and a minor midline notch in the upper lips), hypotonia, polydactyly, development delay, and MTS. Whole exome sequencing revealed biallelic heterozygous mutations c.535C>G(p.Q179E/c.853G>T) (p.E285*) in IFT74, which were inherited from the parents. So far, only one article reported JBTS associated with IFT74 gene mutation, and this is the second report of the fifth patient with JBTS due to variants in IFT74. All five patients had developmental delay, postaxial polydactyly, subtle cleft of the upper lip, hypotonia, and MT...
Source: Frontiers in Genetics - September 1, 2021 Category: Genetics & Stem Cells Source Type: research
Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
CONCLUSIONS: The incidence of Joubert syndrome was at least 1 / 20,000 newborns / year. The pontomesencephalic and peduncular radiological alterations were constant. Hypotonia, psychomotor retardation, and thin / long fingers affected all cases.PMID:34308544 | DOI:10.33588/rn.7304.2021066 (Source: Revista de Neurologia)
Source: Revista de Neurologia - July 26, 2021 Category: Neurology Authors: J M Ramos-Fern ández A Extraviz-Moreno R Calvo-Medina C Ruiz-Garc ía M D Mora-Ram írez Source Type: research
Homozygosity for a novel missense variant of < em > RPGRIP1L < /em > causing Joubert syndrome with renal defects in a family of Chinese descent
This study makes a significant contribution to the literature by expanding knowledge of the JS-causing RPGRIP1L variant spectrum, enhancing understanding of RPGRIP1L variant-associated JS phenotypes.PMID:34308837 | DOI:10.5414/CN110539 (Source: Clinical Nephrology)
Source: Clinical Nephrology - July 26, 2021 Category: Urology & Nephrology Authors: Songyang Sun Lin Chen Niu Li Xike Wang Source Type: research
Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
CONCLUSIONS: The incidence of Joubert syndrome was at least 1 / 20,000 newborns / year. The pontomesencephalic and peduncular radiological alterations were constant. Hypotonia, psychomotor retardation, and thin / long fingers affected all cases.PMID:34308544 | DOI:10.33588/rn.7304.2021066 (Source: Revista de Neurologia)
Source: Revista de Neurologia - July 26, 2021 Category: Neurology Authors: J M Ramos-Fern ández A Extraviz-Moreno R Calvo-Medina C Ruiz-Garc ía M D Mora-Ram írez Source Type: research
Homozygosity for a novel missense variant of < em > RPGRIP1L < /em > causing Joubert syndrome with renal defects in a family of Chinese descent
This study makes a significant contribution to the literature by expanding knowledge of the JS-causing RPGRIP1L variant spectrum, enhancing understanding of RPGRIP1L variant-associated JS phenotypes.PMID:34308837 | DOI:10.5414/CN110539 (Source: Clinical Nephrology)
Source: Clinical Nephrology - July 26, 2021 Category: Urology & Nephrology Authors: Songyang Sun Lin Chen Niu Li Xike Wang Source Type: research
Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
CONCLUSIONS: The incidence of Joubert syndrome was at least 1 / 20,000 newborns / year. The pontomesencephalic and peduncular radiological alterations were constant. Hypotonia, psychomotor retardation, and thin / long fingers affected all cases.PMID:34308544 | DOI:10.33588/rn.7304.2021066 (Source: Revista de Neurologia)
Source: Revista de Neurologia - July 26, 2021 Category: Neurology Authors: J M Ramos-Fern ández A Extraviz-Moreno R Calvo-Medina C Ruiz-Garc ía M D Mora-Ram írez Source Type: research
Homozygosity for a novel missense variant of < em > RPGRIP1L < /em > causing Joubert syndrome with renal defects in a family of Chinese descent
This study makes a significant contribution to the literature by expanding knowledge of the JS-causing RPGRIP1L variant spectrum, enhancing understanding of RPGRIP1L variant-associated JS phenotypes.PMID:34308837 | DOI:10.5414/CN110539 (Source: Clinical Nephrology)
Source: Clinical Nephrology - July 26, 2021 Category: Urology & Nephrology Authors: Songyang Sun Lin Chen Niu Li Xike Wang Source Type: research
Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases
CONCLUSIONS: The incidence of Joubert syndrome was at least 1 / 20,000 newborns / year. The pontomesencephalic and peduncular radiological alterations were constant. Hypotonia, psychomotor retardation, and thin / long fingers affected all cases.PMID:34308544 | DOI:10.33588/rn.7304.2021066 (Source: Revista de Neurologia)
Source: Revista de Neurologia - July 26, 2021 Category: Neurology Authors: J M Ramos-Fern ández A Extraviz-Moreno R Calvo-Medina C Ruiz-Garc ía M D Mora-Ram írez Source Type: research
Homozygosity for a novel missense variant of < em > RPGRIP1L < /em > causing Joubert syndrome with renal defects in a family of Chinese descent
This study makes a significant contribution to the literature by expanding knowledge of the JS-causing RPGRIP1L variant spectrum, enhancing understanding of RPGRIP1L variant-associated JS phenotypes.PMID:34308837 | DOI:10.5414/CN110539 (Source: Clinical Nephrology)
Source: Clinical Nephrology - July 26, 2021 Category: Urology & Nephrology Authors: Songyang Sun Lin Chen Niu Li Xike Wang Source Type: research
Homozygosity for a novel missense variant of < em > RPGRIP1L < /em > causing Joubert syndrome with renal defects in a family of Chinese descent
This study makes a significant contribution to the literature by expanding knowledge of the JS-causing RPGRIP1L variant spectrum, enhancing understanding of RPGRIP1L variant-associated JS phenotypes.PMID:34308837 | DOI:10.5414/CN110539 (Source: Clinical Nephrology)
Source: Clinical Nephrology - July 26, 2021 Category: Urology & Nephrology Authors: Songyang Sun Lin Chen Niu Li Xike Wang Source Type: research
