4.5 Article

CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals

Jasmine Knoll et al.

Summary: Joubert syndrome is a genetically heterogenous disorder characterized by nonmotile cilia and a molar tooth sign on brain imaging. Despite normal growth velocity, individuals with JS have shorter stature and larger head circumference. Genotype and complications like liver disease can influence growth development in patients.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

Article Clinical Neurology

Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation

Hiroko Baber Matsushita et al.

Summary: This case report presents a 4-year-old boy with compound heterozygous variants of ADAMTS9 gene. Unlike the cases reported previously, which showed homozygous variants of ADAMTS9 causing nephronophthisis-related ciliopathies, this case did not have nephronophthisis and renal dysfunction but exhibited features of JSRD. This case suggests a potential association between the clinical presentation of JSRD and ADAMTS9-related disease.

BRAIN & DEVELOPMENT (2022)

Article Genetics & Heredity

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri et al.

Summary: Heterozygous truncating or splice-site SUFU variants cause a novel neurodevelopmental syndrome encompassing COMA and mild JS, likely representing overlapping entities. These variants can be de novo or inherited from a healthy parent, making it the first cause of JS with dominant inheritance and reduced penetrance. Awareness of this condition will increase the diagnostic yield of JS genetic testing and allow appropriate counseling about prognosis, medical monitoring, and recurrence risk.

JOURNAL OF MEDICAL GENETICS (2022)

Article Genetics & Heredity

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome

Hongjun Fei et al.

Summary: By studying a patient with Joubert syndrome (JS), we identified two novel variants of CPLANE1 and analyzed their pathogenicity. RNA splicing analysis revealed that a noncanonical splicing variant may cause C-terminal truncation of the protein.

MOLECULAR GENETICS & GENOMIC MEDICINE (2022)

Review Urology & Nephrology

Ciliopathies and the Kidney: A Review

Dominique J. McConnachie et al.

Summary: Primary cilia are sensory organelles protruding from the apical surface of most cell types, playing important roles in tissue development and signal transduction. Mutations in ciliary-associated proteins result in a group of diseases, with renal ciliopathies being a main focus characterized by kidney cysts due to dysregulated ciliary-dependent signaling. Cystic-associated kidney damage and systemic inflammation lead to kidney failure in these diseases, with no curative pharmacologic treatments currently available.

AMERICAN JOURNAL OF KIDNEY DISEASES (2021)

Article Clinical Neurology

Clinical and Imaging Profile of Patients with Joubert Syndrome

Bharath Kumar Surisetti et al.

Summary: This retrospective study explored the clinical and radiological features of Joubert syndrome (JS) in a cohort of 9 patients. In addition to the typical facial dysmorphism and ocular abnormalities, some patients also exhibited movement disorders such as dystonia. Imaging findings showed horizontally aligned superior cerebellar peduncles in four patients, with a lack of decussation in three. Exome sequencing revealed novel variants in the MKS1, CHANE1, and PIBF1 genes in four patients.

JOURNAL OF MOVEMENT DISORDERS (2021)

Article Genetics & Heredity

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

Xiujuan Zhang et al.

Summary: This study observed clinical feature differences in two siblings from the same family, identifying two novel CPLANE1 variants associated with the occurrence of JBTS and OFD VI. These results help elucidate the intrafamilial phenotypic variability associated with CPLANE1 variants.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Review Biochemistry & Molecular Biology

Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum

Arezou Karamzade et al.

Summary: Joubert syndrome is a rare inherited neurodevelopmental condition caused by mutations in multiple genes, with AHI1 gene being one of the most common mutated genes. A novel pathogenic variant in AHI1 gene was identified in an Iranian Arab family, confirming the diagnosis of JS and demonstrating the efficiency of next-generation sequencing techniques in identifying genetic causes of hereditary disorders.

MOLECULAR BIOLOGY REPORTS (2021)

Article Genetics & Heredity

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Gulten Tuncel et al.

Summary: Joubert syndrome is a rare neurodevelopmental disease characterized by multiple symptoms, affecting cilia structure and function in various organs. This study reports a patient with diverse phenotypes, including a rare homozygous synonymous AHI1 variation, highlighting the need for further investigation regarding the involvement of related genes in ciliopathy phenotypes like Joubert syndrome.

GENES (2021)

Article Genetics & Heredity

Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74

Ke Zhongling et al.

Summary: Joubert syndrome is a rare ciliopathy characterized by the molar tooth sign and associated with mutations in the IFT74 gene; testing for IFT74 gene mutations can aid in the diagnosis of JBTS.

FRONTIERS IN GENETICS (2021)

Article Clinical Neurology

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Laura Powell et al.

Summary: This study identified that some cases clinically diagnosed with Joubert syndrome actually had Poretti-Boltshauser syndrome, highlighting the importance of accurate diagnosis. The inclusion of LAMA1 genetic analysis on all intellectual disability and Joubert syndrome gene panels is recommended to improve diagnostic accuracy for these syndromes.

BRAIN COMMUNICATIONS (2021)

Article Medicine, General & Internal

CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families

Shahrouz Khoshbakht et al.

Summary: This study identified known and novel variants in ciliary genes CEP104 and CEP290 in Iranian families affected by intellectual disabilities and ciliopathy-associated features. Analysis of RNA and protein expression levels in affected individuals showed significant differences compared to normal family members. These findings highlight the clinical variability and importance of these genes in cognitive and neurodevelopmental features.

ARCHIVES OF IRANIAN MEDICINE (2021)

Article Biochemistry & Molecular Biology

Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling

Takashi Yamazoe et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2020)

Article Genetics & Heredity

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Daniel Epting et al.

HUMAN MUTATION (2020)

Article Genetics & Heredity

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

Minna Luo et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Review Genetics & Heredity

Review of Ocular Manifestations of Joubert Syndrome

Stephanie F. Wang et al.

GENES (2018)

Article Cell Biology

Ciliopathies

Daniela A. Braun et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2017)

Article Biochemistry & Molecular Biology

Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network

Lenka Rezabkova et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2016)

Article Genetics & Heredity

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Myriam Srour et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

R. Bachmann-Gagescu et al.

JOURNAL OF MEDICAL GENETICS (2015)