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
Genes, Vol. 12, Pages 1078: Prenatal Versus Postnatal Diagnosis of Meckel –Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Genes, Vol. 12, Pages 1078: Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Genes doi: 10.3390/genes12071078
Authors:
Agnieszka Stembalska
Małgorzata Rydzanicz
Agnieszka Pollak
Grazyna Kostrzewa
Piotr Stawinski
Mateusz Biela
Rafal Ploski
Robert Smigiel
Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability ...
Source: Genes - July 16, 2021 Category: Genetics & Stem Cells Authors: Agnieszka Stembalska Ma łgorzata Rydzanicz Agnieszka Pollak Grazyna Kostrzewa Piotr Stawinski Mateusz Biela Rafal Ploski Robert Smigiel Tags: Article Source Type: research
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum
This study confirms the diagnosis of JS in this family and highlights the efficiency of next-generation sequencing-based technique to identify the genetic causes of hereditary disorders with locus heterogeneity.PMID:34191236 | DOI:10.1007/s11033-021-06508-5 (Source: Mol Biol Cell)
Source: Mol Biol Cell - June 30, 2021 Category: Molecular Biology Authors: Arezou Karamzade Meisam Babaei Mohammad Saberi Neda Golchin Aysun Khalil Nejad Sani Banaei Yeganeh Eshaghkhani Zahra Golchehre Mohammad Keramatipour Source Type: research
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum
This study confirms the diagnosis of JS in this family and highlights the efficiency of next-generation sequencing-based technique to identify the genetic causes of hereditary disorders with locus heterogeneity.PMID:34191236 | DOI:10.1007/s11033-021-06508-5 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - June 30, 2021 Category: Molecular Biology Authors: Arezou Karamzade Meisam Babaei Mohammad Saberi Neda Golchin Aysun Khalil Nejad Sani Banaei Yeganeh Eshaghkhani Zahra Golchehre Mohammad Keramatipour Source Type: research
Genes, Vol. 12, Pages 945: A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype
z Ergoren
Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive–compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecul...
Source: Genes - June 21, 2021 Category: Genetics & Stem Cells Authors: Gulten Tuncel Bahar Kaymakamzade Yeliz Engindereli Sehime G. Temel Mahmut Cerkez Ergoren Tags: Article Source Type: research
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene
Publication date: Available online 16 June 2021Source: Stem Cell ResearchAuthor(s): Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Lidia Pollara, Enza Maria Valente, Patrizia Accorsi, Lucio Giordano, Silvia Clara Giliani (Source: Stem Cell Research)
Source: Stem Cell Research - June 16, 2021 Category: Stem Cells Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
Int J Dev Neurosci. 2021 Jun 5. doi: 10.1002/jdn.10135. Online ahead of print.ABSTRACTJoubert syndrome (JS) and JS-related disorders (JSRD) are a group of neurodevelopmental diseases that share the "molar tooth sign" on axial brain magnetic resonance imaging (MRI), accompanied by cerebellar vermis hypoplasia, ataxia, hypotonia, and developmental delay. To identify variants responsible for the clinical symptoms of a Chinese family with JS and to explore the genotype-phenotype associations, we conducted a series of clinical examinations, including blood tests, brain MRI scans, ultrasound imaging, and ophthalmologic examinati...
Source: International Journal of Developmental Neuroscience - June 6, 2021 Category: Neuroscience Authors: Cheng Zhang Zhenchao Sun Lulu Xu Fengyuan Che Shiguo Liu Source Type: research
