Through an international consortium, we have established a cohort of nearly 50 patients with arhinia and arhinia sub-phenotypes as well as their family members. All patients have undergone whole-exome or targeted sequencing of SMCHD1, with rare, heterozygous missense mutations (in exons 3-13) identified in approximately 90%. Eight patients have undergone deep phenotyping studies that include reproductive, neuromuscular, ophthalmologic, olfactory, and craniofacial assessments at the NIH Clinical Center. Nine patients have undergone skin punch biopsies to provide fibroblasts for iPSC-based experiments.
| Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A et al. (2017) Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49:969 |
