A novel variant in C5ORF42 gene is associated with Joubert syndrome

Mardani, Rajab; Taghizadeh, Eskandar; Taheri, Forough; Raeisi, Mohammadali; Karimzadeh, Mohammad Reza; Rostami, Daryoush; Ferns, Gordon A.; Ghayour‐Mobarhan, Majid

doi:10.1007/s11033-020-05465-9

Cited by 2 publications

(1 citation statement)

References 19 publications

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“…Variable involvement of other organs (such as the eye, kidney, liver, and skeleton) is present in two-thirds of individuals with JS and can manifest at different ages and with variable severity [ 51 ]. In two more recent studies, new variants in JBTS17 associated with JS have been identified [ 52 , 53 ]. Additionally, JBTS17 has been associated with MKS [ 43 ].…”

Section: Cplane and Ciliopathiesmentioning

confidence: 99%

CPLANE Complex and Ciliopathies

Martín-Salazar

Valverde

2022

Biomolecules

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Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway. Some gene complexes, such as BBSome or CPLANE (ciliogenesis and planar polarity effector), have been linked to ciliogenesis. CPLANE complex is composed of INTU, FUZ and WDPCP, which bind to JBTS17 and RSG1 for cilia formation. Defects in these genes have been linked to a malfunction of intraflagellar transport and defects in the planar cell polarity, as well as defective activation of the Hedgehog signalling pathway. These faults lead to defective cilium formation, resulting in ciliopathies, including orofacial–digital syndrome (OFDS) and Bardet–Biedl syndrome (BBS). Considering the close relationship, between the CPLANE complex and cilium formation, it can be expected that defects in the genes that encode subunits of the CPLANE complex may be related to other ciliopathies.

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Section: Cplane and Ciliopathiesmentioning

confidence: 99%

CPLANE Complex and Ciliopathies

Martín-Salazar

Valverde

2022

Biomolecules

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Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

et al. 2023

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Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient. A 2-month-old patient with JBTS was diagnosed after clinical evaluation including family history, physical examination, cerebral MRI, ultrasonography imaging, VEGG, ocular fundus examination, and comprehensive blood and urine testing. Whole exome sequencing (WES) was performed to detect CPLANE1 variants, and Sanger sequencing was used to confirm the variants. This JBTS patient presented with oculomotor apraxia, dysregulation of breathing pattern, and ataxia. MRI revealed poor continuity of cerebelli, batwing appearance, and molar tooth sign. This patient was noted with abnormal hematology, dysregulation of hepatic function, thyroid function, immunity, and renal function, and encephalopathy. CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) variants were noticed in the patient as a pathogenic variant and caused autosomal recessive inheritance. The JBTS patient with mutations in CPLANE1 (c.8948dupT (p.P2984Tfs*7) and c.247G > T (p.G83X)) developed JBTS phenotypes. The novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant will assist clinicians and geneticists in reaching a precise diagnosis for JBTS.

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A novel variant in C5ORF42 gene is associated with Joubert syndrome

Cited by 2 publications

References 19 publications

CPLANE Complex and Ciliopathies

CPLANE Complex and Ciliopathies

Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

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