We have completed exome sequencing of individuals from four families, which have at least one member affected with Moebius syndrome. Each family unit consists of the affected individual(s), non-affected parents, and in some cases, non-affected siblings. We identified a few candidate genes (1-3) per family that have variants segregating with Moebius syndrome (i.e. in affected family members and not in the non-affecteds). The genes identified do not overlap with any of the published candidate genes. Notably, we have not identified candidate genes in common across two or more of the four families studied. It is clear that interrogating a larger number of such families will be needed to increase the chance of finding common genes or genes in common pathways. Furthermore, the ability to assess more homogeneous subgroups of affected individuals based on detailed clinical phenotyping will be invaluable given the complexity and heterogeneity of this disorder with regards to both genetic and potential environmental factors.
| Telegrafi, Aida; Webb, Bryn D; Robbins, Sarah M et al. (2017) Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A 173:2763-2771 |
| Di Gioia, Silvio Alessandro; Connors, Samantha; Matsunami, Norisada et al. (2017) A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun 8:16077 |
