Investigation of the genetic architecture and phenotypic spectrum of Bosma arhinia microphthalmia syndrome

National Institute Of Environmental Health Sciences

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Abstract

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.