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

National Institute Of Environmental Health Sciences

Investigators

Linked publications & trials

Abstract

Through an international consortium, we established a cohort of 50+ patients with arhinia and arhinia sub-phenotypes as well as their family members. We are continuing to recruit patients for phenotyping and genotyping studies. Rare, heterozygous missense mutations (in exons 3-13) in SMCHD1 have been identified in approximately 90% of cases, and a subset of patients have undergone: 1) Deep phenotyping studies that include reproductive, neuromuscular, ophthalmologic, olfactory, and craniofacial assessments at the NIH Clinical Center and/or 2) Skin punch biopsies to provide fibroblasts for iPSC-based experiments in the lab. We are also collaborating with colleagues in X-ray crystallography on SMCHD1 structural biology studies.