Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable. (Source: Brain and Development)
Source: Brain and Development - June 2, 2021 Category: Neurology Authors: Yoshie Sakurai, Tatsuya Watanabe, Yuki Abe, Tatsuro Nawa, Toshihiko Uchida, Hiromi Aoi, Takeshi Mizuguchi, Naomichi Matsumoto, Kazuhiro Haginoya Tags: Case Report Source Type: research
Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective
CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATIONChildren with Joubert Syndrome, a child-onset rare inherited neurodevelopmental condition, are growing up and becoming adults; a life course approach in rehabilitation is needed;There is a substantial lack of information on the long-term adaptive daily functioning of children with a diagnosis of Joubert Syndrome;In this paper, the International C...
Source: Disability and Rehabilitation - May 19, 2021 Category: Rehabilitation Authors: Romina Romaniello Chiara Gagliardi Patrizia Desalvo Livio Provenzi Roberta Battini Enrico Bertini Maria Teresa Bonati Marilena Briguglio Stefano D'Arrigo Maria Teresa Dotti Lucio Giordano Claudio Macaluso Isabella Moroni Sara Nuovo Margherita Santucci Sab Source Type: research
Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
Genetics in Medicine, Published online: 10 May 2021; doi:10.1038/s41436-021-01191-0Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - May 10, 2021 Category: Genetics & Stem Cells Authors: Minna Luo Zaisheng Lin Tian Zhu Minjun Jin Dan Meng Ruida He Zongfu Cao Yue Shen Chao Lu Ruikun Cai Yong Zhao Xueyan Wang Hui Li Shijing Wu Xuan Zou Guanjun Luo Li Cao Min Huang Huike Jiao Huafang Gao Ruifang Sui Chengtian Zhao Xu Ma Muqing Cao Source Type: research
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
ConclusionThis study reports that two novelCPLANE1 variants are associated with the occurrence of JBTS and OFD VI. These results help elucidate the intrafamilial phenotypic variability associated withCPLANE1 variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 6, 2021 Category: Genetics & Stem Cells Authors: Xiujuan Zhang,
Yue Shen,
Ping Li,
Ruikun Cai,
Chao Lu,
Qian Li,
Cuixia Chen,
Yufei Yu,
Tingting Cheng,
Xian Wang,
Minna Luo,
Muqing Cao,
Zongfu Cao,
Xu Ma Tags: ORIGINAL ARTICLE Source Type: research
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
CONCLUSION: This study reports that two novel CPLANE1 variants are associated with the occurrence of JBTS and OFD VI. These results help elucidate the intrafamilial phenotypic variability associated with CPLANE1 variants.PMID:33822487 | DOI:10.1002/mgg3.1682 (Source: Molecular Medicine)
Source: Molecular Medicine - April 6, 2021 Category: Molecular Biology Authors: Xiujuan Zhang Yue Shen Ping Li Ruikun Cai Chao Lu Qian Li Cuixia Chen Yufei Yu Tingting Cheng Xian Wang Minna Luo Muqing Cao Zongfu Cao Xu Ma Source Type: research
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
CONCLUSION: This study reports that two novel CPLANE1 variants are associated with the occurrence of JBTS and OFD VI. These results help elucidate the intrafamilial phenotypic variability associated with CPLANE1 variants.PMID:33822487 | DOI:10.1002/mgg3.1682 (Source: Molecular Medicine)
Source: Molecular Medicine - April 6, 2021 Category: Molecular Biology Authors: Xiujuan Zhang Yue Shen Ping Li Ruikun Cai Chao Lu Qian Li Cuixia Chen Yufei Yu Tingting Cheng Xian Wang Minna Luo Muqing Cao Zongfu Cao Xu Ma Source Type: research
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
CONCLUSION: The cerebellum dysplasia fetus without obvious molar tooth sign was finally diagnosed as Joubert syndrome, combined with the results from genetic detecting and the postnatal clinical symptoms. We also highlight the clinical heterogeneity of encephalodysplasia in Joubert syndrome which increases the difficulty of clinical diagnosis especially for prenatal diagnosis. Our findings provides a new perspective for the prenatal diagnosis of Joubert syndrome with severe craniocerebral dysplasia and expanded the variation spectrum of CPLANE1 gene.PMID:33794348 | DOI:10.1016/j.ejmg.2021.104212 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Haiyan Zhu Wangyang Chen He Ren Yunshan Zhang Yanyan Niu Di Wu Lin Jiang Source Type: research
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
CONCLUSION: The cerebellum dysplasia fetus without obvious molar tooth sign was finally diagnosed as Joubert syndrome, combined with the results from genetic detecting and the postnatal clinical symptoms. We also highlight the clinical heterogeneity of encephalodysplasia in Joubert syndrome which increases the difficulty of clinical diagnosis especially for prenatal diagnosis. Our findings provides a new perspective for the prenatal diagnosis of Joubert syndrome with severe craniocerebral dysplasia and expanded the variation spectrum of CPLANE1 gene.PMID:33794348 | DOI:10.1016/j.ejmg.2021.104212 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Haiyan Zhu Wangyang Chen He Ren Yunshan Zhang Yanyan Niu Di Wu Lin Jiang Source Type: research
Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia
CONCLUSION: The cerebellum dysplasia fetus without obvious molar tooth sign was finally diagnosed as Joubert syndrome, combined with the results from genetic detecting and the postnatal clinical symptoms. We also highlight the clinical heterogeneity of encephalodysplasia in Joubert syndrome which increases the difficulty of clinical diagnosis especially for prenatal diagnosis. Our findings provides a new perspective for the prenatal diagnosis of Joubert syndrome with severe craniocerebral dysplasia and expanded the variation spectrum of CPLANE1 gene.PMID:33794348 | DOI:10.1016/j.ejmg.2021.104212 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - April 1, 2021 Category: Genetics & Stem Cells Authors: Haiyan Zhu Wangyang Chen He Ren Yunshan Zhang Yanyan Niu Di Wu Lin Jiang Source Type: research
Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition [RESOURCES]
The human brain differs from that of other primates, but the genetic basis of these differences remains unclear. We investigated the evolutionary pressures acting on almost all human protein-coding genes (N = 11,667; 1:1 orthologs in primates) based on their divergence from those of early hominins, such as Neanderthals, and non-human primates. We confirm that genes encoding brain-related proteins are among the most strongly conserved protein-coding genes in the human genome. Combining our evolutionary pressure metrics for the protein-coding genome with recent data sets, we found that this conservation applied to genes func...
Source: Genome Research - March 1, 2021 Category: Genetics & Stem Cells Authors: Dumas, G., Malesys, S., Bourgeron, T. Tags: RESOURCES Source Type: research
Teenager with a Unilateral Cloudy Eye
A 17-year-old male with Joubert syndrome and developmental delay presented to the emergency department with 2 days of right eye cloudiness, overlying opacification, and eye drainage. There was associated lacrimation and eye discomfort. One year prior, he was diagnosed with a refractive error, but had not been wearing his corrective lenses. There were no other ocular issues. There were no associated fevers, weight loss, eye redness, or injected conjunctivae. There was no ocular trauma, and no exposures to irritants. (Source: The Journal of Pediatrics)
Source: The Journal of Pediatrics - February 17, 2021 Category: Pediatrics Authors: Shelease C. O ’Bryant, Kim Little-Wienert Tags: Insights and Images Source Type: research
Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature
We report two cases in which MTS was identified on prenatal ultrasound at 22 and 21 weeks (wk) of gestational age respectively. The other prenatal findings on ultrasound included polydactyly and anteropo steriorly enlarged 4th ventricle and vermian hypoplasia in both, and, aortic stenosis evolving to hypoplastic left heart in the former. Prenatal MRI was not done. Amniocentesis was done in the one with associated cardiac anomaly which was reported as normal. In both cases, the couple opted for term ination of pregnancy and declined fetal autopsy and further mutation analysis. Only a few cases of JSRD diagnosed on prenat...
Source: Journal of Fetal Medicine - February 17, 2021 Category: Perinatology & Neonatology Source Type: research
Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition [RESOURCES]
The human brain differs from that of other primates, but the genetic basis of these differences remains unclear. We investigated the evolutionary pressures acting on almost all human protein-coding genes (N = 11,667; 1:1 orthologs in primates) based on their divergence from those of early hominins, such as Neanderthals, and non-human primates. We confirm that genes encoding brain-related proteins are among the most strongly conserved protein-coding genes in the human genome. Combining our evolutionary pressure metrics for the protein-coding genome with recent data sets, we found that this conservation applied to genes func...
Source: Genome Research - February 12, 2021 Category: Genetics & Stem Cells Authors: Dumas, G., Malesys, S., Bourgeron, T. Tags: RESOURCES Source Type: research
A Case of Joubert Syndrome with Chronic Kidney Disease
MP Shamsudheen, Uttara Das, Gangadhar Taduri, Swarnalatha Guditi, Raja Karthik, Rajani ThakurIndian Journal of Nephrology 2021 31(1):61-63
Joubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy and has variable renal involvement. Herein, we report a case of a 9-year-old boy with developmental delay, presented as chronic kidney disease and evaluation showed features of Joubert synd...
Source: Indian Journal of Nephrology - February 9, 2021 Category: Urology & Nephrology Authors: MP Shamsudheen Uttara Das Gangadhar Taduri Swarnalatha Guditi Raja Karthik Rajani Thakur Source Type: research
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome
Genetics in Medicine, Published online: 02 February 2021; doi:10.1038/s41436-021-01106-zDisrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome (Source: Genetics in Medicine)
Source: Genetics in Medicine - February 2, 2021 Category: Genetics & Stem Cells Authors: Minna Luo Zaisheng Lin Tian Zhu Minjun Jin Dan Meng Ruida He Zongfu Cao Yue Shen Chao Lu Ruikun Cai Yong Zhao Xueyan Wang Hui Li Shijing Wu Xuan Zou Guanjun Luo Li Cao Min Huang Huike Jiao Huafang Gao Ruifang Sui Chengtian Zhao Xu Ma Muqing Cao Source Type: research
