Hassab ’s operation for Joubert syndrome with congenital hepatic fibrosis: A case report
CONCLUSION This is the first case report of Hassab’s operation for congenital hepatic fibrosis in a patient with Joubert syndrome, a rare congenital condition. We achieved a favorable clinical outcome. (Source: International Journal of Surgery Case Reports)
Source: International Journal of Surgery Case Reports - March 28, 2017 Category: Surgery Source Type: research
Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders
Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - March 27, 2017 Category: Genetics & Stem Cells Authors: Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi and Takeo Kato Source Type: research
Renal cystic disease and associated ciliopathies
Purpose of review: To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies.
Recent findings: There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet–Biedl syndrome, Meckel–Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaci...
Source: Current Opinion in Obstetrics and Gynecology - March 7, 2017 Category: OBGYN Tags: PRENATAL DIAGNOSIS: Edited by Jane Chueh Source Type: research
Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication
In this study, we generated bacterial artificial chromosome‐based transgenic mice, called 2q13 dup, that recapitulate human chromosome 2q13 duplication and contain one extra copy of the Nphp1 transgene. To analyze any behavioral alterations in 2q13 dup mice, we conducted a battery of behavioral tests. Although 2q13 dup mice show no significant differences in social behavior, they show deficits in spontaneous alternation behavior and fear memory. We also carried out magnetic resonance imaging to confirm whether copy number gain in this locus affects the neuroanatomy. There was a trend toward a decrease in the cerebellar p...
Source: Genes to Cells - March 1, 2017 Category: Genetics & Stem Cells Authors: Keiko Kishimoto, Jun Nomura, Jacob Ellegood, Keita Fukumoto, Jason P. Lerch, Daniel Moreno ‐De‐Luca, Thomas Bourgeron, Kota Tamada, Toru Takumi Tags: Original Article Source Type: research
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia
Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - February 28, 2017 Category: Neurology Authors: Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto Source Type: research
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients ’ fibroblasts. (Source: Human Genetics)
Source: Human Genetics - February 19, 2017 Category: Genetics & Stem Cells Source Type: research
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome
(Source: Pediatrics International)
Source: Pediatrics International - January 18, 2017 Category: Pediatrics Authors: Sami Bizzari, Abdul Rezzak Hamzeh, Pratibha Nair, Madiha Mohamed, Fatma Bastaki Tags: Clinical Notes Source Type: research
INPP5E regulates phosphoinositide-dependent cilia transition zone function
We report Inpp5e–/– embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedgehog signaling. Using mouse genetics, we show increasing Hedgehog signaling via Smoothened M2 expression rescues some Inpp5e–/– ciliopathy phenotypes and "normalizes" Hedgehog signaling. INPP5E’s phosphoinositide substrates PI(4,5)P2 and PI(3,4,5)P3 accumulated at the transition zone (TZ) in Hedgehog-stimulated Inpp5e–/– cells, which was associated with reduced recruitment of TZ scaffolding proteins and reduced Smoothened levels at cilia. Expression of wild-type, but not 5-phosphatase-dead, ...
Source: Journal of Cell Biology - January 1, 2017 Category: Cytology Authors: Dyson, J. M., Conduit, S. E., Feeney, S. J., Hakim, S., DiTommaso, T., Fulcher, A. J., Sriratana, A., Ramm, G., Horan, K. A., Gurung, R., Wicking, C., Smyth, I., Mitchell, C. A. Tags: Cell Signaling, Cilia, Development Articles Source Type: research
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic “molar tooth sign” on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity. Here, we report bi‐allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, ...
Source: American Journal of Medical Genetics Part A - December 31, 2016 Category: Genetics & Stem Cells Authors: Thierry Vilboux, May Christine V. Malicdan, Joseph C. Roney, Andrew R. Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C. Mullikin, , Peter J. Steinbach, William A. Gahl, Meral Gunay ‐Aygun Tags: Clinical Report Source Type: research
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane
Phosphoinositides, a family of phosphorylated derivatives of phosphatidylinositol (PtdIns), are tightly regulated both temporally and spatially by PtdIns phosphatases and kinases. Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause Joubert syndrome, a human disorder associated with numerous ciliopathic defects, including renal cyst formation, linking phosphoinositides to ciliopathies. However, the molecular mechanism by which INPP5E-mediated PtdIns signaling regulates ciliogenesis and cystogenesis is unclear. Here, we utilized an in vivo vertebrate model of renal cystogenesis to show that Inpp5e enzymatic ac...
Source: Journal of the American Society of Nephrology : JASN - December 29, 2016 Category: Urology & Nephrology Authors: Xu, W., Jin, M., Hu, R., Wang, H., Zhang, F., Yuan, S., Cao, Y. Tags: Basic Research Source Type: research
A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.
We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered f...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.
Authors: Xiao D, Lv C, Zhang Z, Wu M, Zheng X, Yang L, Li X, Wu G, Chen J
Abstract
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput s...
Source: Molecular Medicine Reports - December 15, 2016 Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts
The gene for ADP ribosylation factor–like GTPase 13B (Arl13b) encodes a small GTPase essential for cilia biogenesis in multiple model organisms. Inactivation of arl13b in zebrafish leads to a number of phenotypes indicative of defective cilia, including cystic kidneys. In mouse, null mutation in Arl13b results in severe patterning defects in the neural tube and defective Hedgehog signaling. Human mutations of ARL13B lead to Joubert syndrome, a ciliopathy. However, patients with mutated ARL13B do not develop kidney cysts. To investigate whether Arl13b has a role in ciliogenesis in mammalian kidney and whether loss of ...
Source: Journal of the American Society of Nephrology : JASN - November 29, 2016 Category: Urology & Nephrology Authors: Li, Y., Tian, X., Ma, M., Jerman, S., Kong, S., Somlo, S., Sun, Z. Tags: Basic Research Source Type: research
An abnormal ocular motor manifestation of Joubert syndrome
We describe and present a video of a child with Joubert syndrome with an alternating skew deviation in primary position rather than on lateral gaze, which is a more characteristic phenotype of this condition. (Source: Journal of American Association for Pediatric Ophthalmology and Strabismus)
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - November 16, 2016 Category: Opthalmology Source Type: research
An abnormal ocular motor manifestation of Joubert syndrome
We describe and present a video of a child with Joubert syndrome with an alternating skew deviation in primary position rather than on lateral gaze, which is a more characteristic phenotype of this condition. (Source: Journal of AAPOS)
Source: Journal of AAPOS - November 15, 2016 Category: Opthalmology Authors: Jeanie Ling, Viraj Mehta, Anvesh Reddy, Matthew Hollar, Sean Donahue Tags: Short Report Source Type: research
