Identification of a novel microdeletion causative of Nance-Horan syndrome.

Background: Nance-Horan syndrome (NHS) is a rare X-linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver blade-shaped incisors, supernumerary maxillary incisors, diastema, delays, intellectual disability, and dysmorphic facies. With the evolution of array-CGH technology, a total of five kindreds with NHS have been reported in the medical literature with microdeletions encompassing the NHS gene rather than sequencing variants.

A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.

Background: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12. Recent evidence has proposed that MPAN can also follow autosomal dominant forms of inheritance. We present a case of a de novo pathogenic variant in C19orf12 identified in a female with clinical features consistent with a diagnosis of MPAN, adding further evidence that the disease can be inherited in an autosomal dominant fashion.

Biallelic Pathogenic Variants in Associated With Congenital Myopathy.

Objective: Pathogenic variants in , the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A, was identified in a patient with nemaline myopathy and distal arthrogryposis.

Office of Medical Education: Opportunities for Trainees to Engage and Lead in Curricular Innovation and Reform.

Introduction: The AAMC prioritizes promoting a diverse and culturally competent workforce which is thought to have a positive impact on the health of people living in the US. There is a lack of diversity in the current landscape of academic medicine and strategies are needed to effect change. This module introduced undergraduate and graduate medical trainees to leadership skills and opportunities in curriculum innovation and reform by learning about and interacting with the office of medical education (OME) at their institutions.