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Last update 08 May 2025

Agenesis of Cerebellar Vermis

Last update 08 May 2025

Basic Info

Synonyms

Agenesis of Cerebellar Vermis, Agenesis of cerebellar vermis, CEREBELLOOCULORENAL SYNDROME 1

+ [38]

Introduction

A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

Drugs associated with Agenesis of Cerebellar Vermis

FYNM-007

Target

Cep290

Mechanism

Cep290 modulators

Active Org.

Asocura Pharmaceuticals Suzhou Co., Ltd.

Originator Org.

Asocura Pharmaceuticals Suzhou Co., Ltd.

Active Indication

Agenesis of Cerebellar Vermis

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Agenesis of Cerebellar Vermis

NCT04874909

/ Unknown statusNot ApplicableIIT

Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis

The purpose of the C'IL-LICO RICM study is to develop innovative and transformative diagnostic and prognostic for patients suffering from ciliopathies leading to renal failure.
The objectives is to decipher disease mechanisms and highlight signaling pathways altered in at-risk to develop renal failure patient groups and to produce a prognostic biomarker-based kit to predict the evolution of ciliopathy patients towards renal impairment.

Start Date08 Nov 2021

Sponsor / Collaborator

Assistance Publique des Hôpitaux de Paris SA

ChiCTR2100048366

/ SuspendedPhase 1IIT

Complete transcriptome sequencing of Joubert syndrome

Start Date01 Jul 2021

Sponsor / Collaborator-

ChiCTR2100042216

/ RecruitingEarly Phase 1IIT

Evaluation of ultrasonographic quantitative threshold in fetuses with vermian hypoplasia

Start Date01 Jan 2020

Sponsor / Collaborator-

100 Clinical Results associated with Agenesis of Cerebellar Vermis

100 Translational Medicine associated with Agenesis of Cerebellar Vermis

0 Patents (Medical) associated with Agenesis of Cerebellar Vermis

1,419

Literatures (Medical) associated with Agenesis of Cerebellar Vermis

01 Jul 2025·Human Genetics and Genomics Advances

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene

Article

Author: Beck, Bodo B ; Reusch, Björn ; Bolz, Hanno J ; Habbig, Sandra ; Betz, Christian ; Langmann, Thomas

"En bloc" inheritance of point mutations in adjacent genes has rarely been described. We have previously reported a family with severe, mostly early-lethal Joubert syndrome (JBTS) with early-onset severe retinal dystrophy (EOSRD) and polycystic kidney disease (PKD), which at that time had been attributed to a homozygous pathogenic missense variant, p.Arg106Pro (c.317G>C), in the ciliary POC1B gene. Because this and other POC1B variants were, in subsequent studies, only reported in patients with non-syndromic childhood or early-adult-onset macular dystrophy, we have now reassessed our index patient by long-read high-fidelity (HiFi) whole-genome sequencing (LR-WGS). We identified a homozygous deep-intronic variant, c.2818-657T>G, in CEP290, a JBTS/Meckel syndrome-associated gene on chromosome 12q21, only 1.28 Mb from the N terminus of POC1B. cDNA analysis revealed aberrant splicing with the frame-shifting inclusion of 37 bp from CEP290 intron 25, predicting the loss of CEP290 function. EOSRD and PKD can fully be ascribed to this CEP290 variant, whose effect outshines the "background" non-syndromic POC1B retinopathy and co-segregates with the severe syndromic phenotype. Our novel findings in this family no longer justify POC1B as a JBTS gene. This co-inheritance of two ciliopathies, with the clinically decisive variant hidden deep in an intron, exemplifies the importance of WGS for achieving the complete diagnosis in challenging cases.

01 Jun 2025·Radiology Case Reports

Retraction notice to “Prenatal Diagnosis of Joubert Syndrome: A case report” [Radiol. Case Rep. 19/10 (October 2024) 4369–4374]

Article

Author: Yen, Vu T H

[This retracts the article DOI: 10.1016/j.radcr.2024.07.009.].

04 May 2025·Neuro-Ophthalmology

Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome

Article

Author: Bhate, Manjushree ; Bansal Bhandari, Shivani ; Jayaraman, Deiva ; Jalali, Subhadra ; Varma, Ravi

ObjectiveTo report the ophthalmic, neurological, and radiological profile in a cohort of patients suspected with Joubert syndrome (JS).MethodsA retrospective review of electronic medical records of patients diagnosed with or referred as a diagnosed case of JS was conducted. Clinical profile, visual electrophysiology, and rehabilitation, along with radiologic features, were studied.ResultsTotal 26 patients were studied, mean age at presentation was 4.6 (±2.8) years, and the male-to-female ratio was 3.3:1. Among patients with quantitative vision assessment (n = 11; 42.3%), severe visual impairment was noted in the better eye at presentation in five patients (45.5%), while moderate vision loss was observed in six patients (54.5%). Fixing following light or no fixation was documented in 15 patients. Astigmatism (with hyperopia/myopia) was the most common refractive error in 14 patients (14/26; 53.84%), and high hypermetropia >+6D was noted in five patients (5/26; 19.23%). Exotropia was more frequent (n = 13; 50%) in patients. Head thrust/oculomotor apraxia was noted in four (15.3%) and retinal dystrophy in eight (32%) patients. Electroretinogram (n = 5/8) testing revealed subnormal or undetectable scotopic and photopic responses. MRI brain revealed a molar tooth sign in all patients (n = 26; 100%). Rehabilitation specialists evaluated 16 children with a range of follow-up visits (1-33 visits), and improvement in visual acuity was noted in eight children.ConclusionsIn our cohort, visual impairment with abnormal eye movements and generalized hypotonia were the most consistent clinical features, and a molar tooth sign on MRI brain was the most consistent radiological feature. Neuro-imaging should be considered in all. Visual rehabilitation plays a crucial role in the multidisciplinary management.

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Agenesis of Cerebellar Vermis

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