Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Conclusion
This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 21, 2023 Category: Genetics & Stem Cells Authors: Serpieri, V., Mortarini, G., Loucks, H., Biagini, T., Micalizzi, A., Palmieri, I., Dempsey, J. C., DAbrusco, F., Mazzotta, C., Battini, R., Bertini, E. S., Boltshauser, E., Borgatti, R., Brockmann, K., D'Arrigo, S., Nardocci, N., Fischetto, R., Agolini, E Tags: Open access Neurogenetics Source Type: research
Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy
Adv Exp Med Biol. 2023;1415:283-288. doi: 10.1007/978-3-031-27681-1_41.ABSTRACTPhotoreceptors are highly polarized sensory neurons. Precise localization of signaling molecules within the ciliary outer segment is critical for photoreceptor function and viability. The small GTPase Arl3 plays a particularly important role in photoreceptors as it regulates outer segment enrichment of lipidated proteins essential for the visual response: transducin-α, transducin-γ, PDEα, PDE β, and Grk1. Recently, mutations in Arl3 have been identified in human patients with nonsyndromic autosomal recessive and dominant inherited retinal de...
Source: Advances in Experimental Medicine and Biology - July 13, 2023 Category: Research Authors: Amanda M Travis Jillian N Pearring Source Type: research
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
Cerebellum. 2023 Jun 23. doi: 10.1007/s12311-023-01580-y. Online ahead of print.ABSTRACTThe neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile ...
Source: Cerebellum - June 23, 2023 Category: Neuroscience Authors: Niccol ò Butti Viola Oldrati Elisabetta Ferrari Romina Romaniello Chiara Gagliardi Renato Borgatti Cosimo Urgesi Source Type: research
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
Cerebellum. 2023 Jun 23. doi: 10.1007/s12311-023-01580-y. Online ahead of print.ABSTRACTThe neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile ...
Source: Cerebellum - June 23, 2023 Category: Neuroscience Authors: Niccol ò Butti Viola Oldrati Elisabetta Ferrari Romina Romaniello Chiara Gagliardi Renato Borgatti Cosimo Urgesi Source Type: research
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
Cerebellum. 2023 Jun 23. doi: 10.1007/s12311-023-01580-y. Online ahead of print.ABSTRACTThe neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile ...
Source: Cerebellum - June 23, 2023 Category: Neuroscience Authors: Niccol ò Butti Viola Oldrati Elisabetta Ferrari Romina Romaniello Chiara Gagliardi Renato Borgatti Cosimo Urgesi Source Type: research
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
Cerebellum. 2023 Jun 23. doi: 10.1007/s12311-023-01580-y. Online ahead of print.ABSTRACTThe neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile ...
Source: Cerebellum - June 23, 2023 Category: Neuroscience Authors: Niccol ò Butti Viola Oldrati Elisabetta Ferrari Romina Romaniello Chiara Gagliardi Renato Borgatti Cosimo Urgesi Source Type: research
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
Cerebellum. 2023 Jun 23. doi: 10.1007/s12311-023-01580-y. Online ahead of print.ABSTRACTThe neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile ...
Source: Cerebellum - June 23, 2023 Category: Neuroscience Authors: Niccol ò Butti Viola Oldrati Elisabetta Ferrari Romina Romaniello Chiara Gagliardi Renato Borgatti Cosimo Urgesi Source Type: research
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations
AbstractThe neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile of JS compared to other congenital cerebellar malformations (CM), considering in...
Source: The Cerebellum - June 23, 2023 Category: Neurology Source Type: research
New insights into CC2D2A-related Joubert syndrome
Conclusion
This study contradicts previous literature stating an association between CC2D2A-related JS and ventriculomegaly. Our study implies that CC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - May 22, 2023 Category: Genetics & Stem Cells Authors: Harion, M., Qebibo, L., Riquet, A., Rougeot, C., Afenjar, A., Garel, C., Louha, M., Lacaze, E., Audic-Gerard, F., Barth, M., Berquin, P., Bonneau, D., Bourdain, F., Busa, T., Colin, E., Cuisset, J.-M., Des Portes, V., Dorison, N., Francannet, C., Heron, B Tags: Neurogenetics Source Type: research
A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype with Novel Genotype
Joubert syndrome (JBTS; OMIM #PS213300) is a rare neurodevelopmental disorder that presents with variable degrees of developmental delay, hypotonia, and ataxia. The radiologic hallmark of JBTS is the “molar tooth sign” (MTS) on magnetic resonance imaging (MRI) of the brain, which is caused by midbrain-hindbrain malformations.1,2 (Source: Pediatric Neurology)
Source: Pediatric Neurology - May 2, 2023 Category: Neurology Authors: Nankee Kumar, Tomoki Nomakuchi, Arastoo Vossough, Jacqueline M.M. Leonard, Holly Dubbs, Sonika Agarwal Tags: Short Communication Source Type: research
Genes, Vol. 14, Pages 810: Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
la Elvira Covone
The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical features of Joubert Syndrome (JBTS): “Molar Tooth Sign”, global developmental delay, nystagmus, mild hypotonia, and oculomotor apraxia. Whole exome sequencing and segregation analysis identified in our infant patient a novel heterozygous germline missense variant c.3626C > T; p.(Pro1209Leu) inherited from the father and a n...
Source: Genes - March 28, 2023 Category: Genetics & Stem Cells Authors: Rute Lu ísa Cabrita Pinto Silvia Viaggi Edoardo Canale Marina Martinez Popple Valeria Capra Giuseppina Conteduca Barbara Testa Domenico Coviello Angela Elvira Covone Tags: Brief Report Source Type: research
Good outcome of tracheostomy in a COVID ‐19 child with Joubert syndrome—Case report
We report the case of a child with Joubert syndrome and a severe form of COVID-19 infection, in whom we performed tracheostomy in order to replace prolonged intubation and mechanical ventilation; successful decannulation was performed after 12 months. Successful decannulation is still possible in a child with severe comorbidities (Joubert syndrome) even if it might take much longer than in patients without comorbidities. (Source: Clinical Case Reports)
Source: Clinical Case Reports - February 16, 2023 Category: General Medicine Authors: Veronica Epure,
Doru Oprea,
Dan Cristian Gheorghe Tags: CASE REPORT Source Type: research
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
