Involuntary Eye Movements Accompanied by Head Thrusting to View Objects
This five-month-old girl with tetralogy of Fallot showed constant rapid movements to right or left one week after birth. Therefore, her parents could not establish eye contact with her. After four months, she began thrusting her head from left to right when following target objects (Fig. 1 and 2). Her limb movements did not exhibit ataxia or tremor. Ophthalmological examination did not show any abnormalities in the retina. Electroencephalography and visual evoked potentials were normal. Brain magnetic resonance imaging did not show any abnormalities, such as elongated superior cerebellar peduncles or hypoplasia of the cere...
Source: Pediatric Neurology - October 23, 2018 Category: Neurology Authors: Masahide Goto, Shinji Makino, Takanori Yamagata Tags: Visual Diagnosis Source Type: research
EP09.19: Prenatal diagnosis of Joubert syndrome by ultrasound and MRI
Ultrasound in Obstetrics&Gynecology,Volume 52, Issue S1, Page 233-233, October 2018. (Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - October 16, 2018 Category: Radiology Authors: W. Xia Source Type: research
Missense variants in TMEM67 in a patient with Joubert syndrome
Clinical Case Reports, EarlyView. (Source: Clinical Case Reports)
Source: Clinical Case Reports - October 5, 2018 Category: General Medicine Authors: Julie M. Huynh,
Maureen Galindo,
Christina M. Laukaitis Source Type: research
Tectonic Proteins Are Important Players in Non-Motile Ciliopathies
Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To date, nearly 200 genes have been shown to be associated with primary ciliopathies. Among them, tectonic genes are the important causative genes of ciliopathies. Tectonic proteins including TCTN1, TCTN2, and TCTN3 are important component proteins residing at the transition zone of cilia. Indeed, many ciliopathies have been reported to involve tectonics mutations, highlighti...
Source: Cellular Physiology and Biochemistry - October 4, 2018 Category: Cytology Source Type: research
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated with pathogenic variants in known JBTS-associated genes. Combined autozygosity mapping of both families highlighted a candidate locus on chromosome 10 (chr10: 101569997 –109106128, UCSC Genome Browser hg 19), and exome sequencing revealed two missense variants in ARL3 within the candidate locus. (Source: The American Journal of Human Genetics)
Source: The American Journal of Human Genetics - September 27, 2018 Category: Genetics & Stem Cells Authors: Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin Elmaghloob, Louise A. Stephen, Veronica Sammut, Simon A. Ramsbottom, Shalabh Srivastava, George Cairns, Noel Edwards, Sarah J. Rice, Nour Ewida, Amal Alhashem, Kathryn White, Colin G. Miles, David H. Tags: Report Source Type: research
The Spectrum of Sleep Disordered Breathing in Joubert Syndrome
10-year-old male and 8-year-old female siblings presented for developmental evaluation and insomnia. Both were term babies with no prenatal or post-natal complications. In early infancy daytime abnormal respiratory patterns existed with episodes of rapid breathing and apnea. These resolved in the brother only. Frequent nighttime awakenings occurred with no snoring. On examination, they had normal BMI, dysmorphic features including hypertelorism, small earlobes, broad mouth, intermittent tongue protrusion and anteverted nostrils. (Source: Sleep Medicine)
Source: Sleep Medicine - September 19, 2018 Category: Sleep Medicine Authors: Mandeep Rana, Mugdha Mohanty Tags: Images in Sleep Medicine Source Type: research
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT
ConclusionsTo our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - August 1, 2018 Category: Opthalmology Source Type: research
Developmental expression of the zebrafish Arf-like small GTPase paralogs arl13a and arl13b
Publication date: September 2018Source: Gene Expression Patterns, Volume 29Author(s): Ping Song, Brian D. PerkinsAbstractMembers of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is a close paralog to Arl13b, a small GTPase required for normal cilia formation that causes Joubert Syndrome when mutated. As mutation of arl13b causes a slow retinal degeneration in zebrafish (Song et al., 2016), we hypothesized that expression of arl13a may provide functional redundancy. We determined the expressio...
Source: Gene Expression Patterns - July 18, 2018 Category: Genetics & Stem Cells Source Type: research
Developmental expression of the zebrafish Arf-like small GTPase paralogs arl13a and arl13b.
Abstract
Members of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is a close paralog to Arl13b, a small GTPase required for normal cilia formation that causes Joubert Syndrome when mutated. As mutation of arl13b causes a slow retinal degeneration in zebrafish (Song et al., 2016), we hypothesized that expression of arl13a may provide functional redundancy. We determined the expression domains of arl13a and arl13b during zebrafish development and examined subcellular localizati...
Source: Gene Expression Patterns : GEP - July 13, 2018 Category: Genetics & Stem Cells Authors: Song P, Perkins BD Tags: Gene Expr Patterns Source Type: research
Cep120 promotes microtubule formation through a unique tubulin binding C2 domain
Publication date: July 2018Source: Journal of Structural Biology, Volume 203, Issue 1Author(s): Ashwani Sharma, Samuel F. Gerard, Natacha Olieric, Michel O. SteinmetzAbstractCentrioles are microtubule-based structures that play essential roles in cell division and cilia biogenesis. Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. Here, we show that Cep120 contains three consecutive C2 domains that are followed by a coiled-coil dimerization domain. Surprisingly, unlike the classical C2 domains, all thre...
Source: Journal of Structural Biology - July 11, 2018 Category: Biology Source Type: research
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT
ConclusionsTo our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - July 10, 2018 Category: Opthalmology Source Type: research
Cep120 promotes microtubule formation through a unique tubulin binding C2 domain
Publication date: July 2018Source: Journal of Structural Biology, Volume 203, Issue 1Author(s): Ashwani Sharma, Samuel F. Gerard, Natacha Olieric, Michel O. SteinmetzAbstractCentrioles are microtubule-based structures that play essential roles in cell division and cilia biogenesis. Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. Here, we show that Cep120 contains three consecutive C2 domains that are followed by a coiled-coil dimerization domain. Surprisingly, unlike the classical C2 domains, all thre...
Source: Journal of Structural Biology - July 5, 2018 Category: Biology Source Type: research
Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.
Conclusion: Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene.
PMID: 29955609 [PubMed - in process] (Source: Biomed Res)
Source: Biomed Res - June 30, 2018 Category: Research Authors: Xiang J, Zhang L, Jiang W, Zhang Q, Wang T, Li H, Li H Tags: Biomed Res Int Source Type: research
New | phs000382.v3.p1 | CIDR Whole Exome Sequencing in Joubert Syndrome
CIDR Whole Exome Sequencing in Joubert Syndrome (study page |release notes) (Source: dbGaP, the database of Genotypes and Phenotypes)
Source: dbGaP, the database of Genotypes and Phenotypes - June 7, 2018 Category: Genetics & Stem Cells Tags: StudyRelease Source Type: research
