Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories

López Gutierrez, Diego; Luna López, Ingrid; Medina Mata, Blanca Ameyalli; Moreno Castro, Sebastián; García Rangel, Fernanda Yerai

doi:10.1016/j.pediatrneurol.2024.01.007

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2024

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Cited by 2 publications

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Kongenitale Augenbewegungsstörungen

Oeverhaus

2024

Springer Reference Medizin

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Kongenitale Augenbewegungsstörungen

Oeverhaus

2024

Springer Reference Medizin

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Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing

Moresco,

Bedeschi,

Venturin

et al. 2024

Genes

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Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/variable expressivity have been described. The genetic etiology of MBS is still unclear: de novo pathogenic variants in REV3L and PLXND1 are reported in only a minority of cases, suggesting the involvement of additional causative genes. With the aim to uncover the molecular causative defect and identify a potential genetic basis of this condition, we performed trio-WES on a cohort of 37 MBS and MBS-like patients. No de novo variants emerged in REV3L and PLXND1. We then proceeded with a cohort analysis to identify possible common causative genes among all patients and a trio-based analysis using an in silico panel of candidate genes. However, identified variants emerging from both approaches were considered unlikely to be causative of MBS, mainly due to the lack of clinical overlap. In conclusion, despite this large cohort, WES failed to identify mutations possibly associated with MBS, further supporting the heterogeneity of this syndrome, and suggesting the need for integrated omics approaches to identify the molecular causes underlying MBS development.

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Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories

Cited by 2 publications

References 86 publications

Kongenitale Augenbewegungsstörungen

Kongenitale Augenbewegungsstörungen

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing

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