Front Genet
Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.
Published: January 2024
Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, and have been identified to cause MBS. We present a 9-year-old male clinically diagnosed with MBS, presenting facial palsy, altered ocular mobility, microglossia, dental anomalies and congenital torticollis. Radiologically, he lacks both abducens nerves and shows altered symmetry of both facial and vestibulocochlear nerves. Whole-exome sequence identified a missense variant c.643G>A; p.Gly215Arg in , encoding the α2-chimaerin protein. The p.Gly215Arg variant is located in the C1 domain of CHN1 where other pathogenic gain of function variants have been reported. Bioinformatic analysis and molecular structural modelling predict a deleterious effect of the missense variant on the protein function. Our findings support that pathogenic variants in the gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes. We propose to include in the genetic diagnoses of MBS.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10865368 | PMC |
http://dx.doi.org/10.3389/fgene.2024.1291063 | DOI Listing |
Sleep Med
December 2024
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Pediatr Int
September 2024
Department of Pediatrics, Faculty of Medicine, Kagawa University, Kitagun, Kagawa, Japan.
J Plast Reconstr Aesthet Surg
November 2024
Division of Plastic Surgery, Indiana University School of Medicine, USA. Electronic address:
Acta Psychol (Amst)
September 2024
Ludwigsburg University of Education, Germany.
Genes (Basel)
July 2024
Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy.
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 and are reported in only a minority of cases, suggesting the involvement of additional causative genes.
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