SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Conclusion
Heterozygous truncating or splice-site SUFU variants cause a novel neurodevelopmental syndrome encompassing COMA and mild JS, which likely represent overlapping entities. Variants can arise de novo or be inherited from a healthy parent, representing 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 counselling about prognosis, medical monitoring and recurrence risk. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Serpieri, V., DAbrusco, F., Dempsey, J. C., Cheng, Y.-H. H., Arrigoni, F., Baker, J., Battini, R., Bertini, E. S., Borgatti, R., Christman, A. K., Curry, C., D'Arrigo, S., Fluss, J., Freilinger, M., Gana, S., Ishak, G. E., Leuzzi, V., Loucks, H., Manti, F Tags: Open access Neurogenetics Source Type: research
Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts – A Case Report
We report a case of 2-month-old female infant, the product of a consanguineous marriage, with a sibling affected by JS, presenting with intermittent hyperpnea, apnea, facial dysmorphism, strabismus, oculomotor apraxia, proptosis, retinal dystrophy, chorioretinal coloboma, and large retrobulbar cysts communicating with the coloboma. Magnetic resonance imaging of the brain revealed the characteristic neuroradiologic finding, the “molar tooth sign.” The child does not fix or follow the light, and the visual prognosis with all the ocular features of the syndrome present is extremely poor. In addition to adding to the diver...
Source: Case Reports in Ophthalmology - August 16, 2022 Category: Opthalmology Source Type: research
Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders
CONCLUSIONS: Our findings expanded the mutation spectrum of Joubert syndrome related disorders, and provided solid evidence to the affected families for further genetic counseling and pregnancy guidance.PMID:35958498 | PMC:PMC9360900 (Source: American Journal of Translational Research)
Source: American Journal of Translational Research - August 12, 2022 Category: Research Authors: Jing Zhang Lihui Wang Wenqi Chen Jun Duan Yanxin Meng Huafang Yang Qing Guo Source Type: research
