Elizabeth H. Ketchum, MD: Provided substantial contributions to the conception of the work as well as drafted, reviewed, and revised the manuscript and serves as the submitting and corresponding author.

Charles L. Groomes, MD: Provided substantial contributions to the conception of the work as well as drafted and reviewed the manuscript.

Alexis N. Ghersi, MD: Drafted and reviewed the manuscript.

Brian B. Graziose, MD: Drafted and reviewed the manuscript.

Sharen C. Wilson, DO: Drafted and reviewed the manuscript.

Sidney E Zven, MD: Drafted and reviewed the manuscript.

Rebecca L. Hicks, MMSc, CGC: Created the family pedigree and contributed to the reviewing of the manuscript

William A. Langley: Performed exome and RNA sequencing analysis, created figure 1B, and assisted with reviewing of the manuscript

Michael A. Reott Jr.: Performed exome and RNA sequencing analysis, created figure 1B, and assisted with reviewing of the manuscript

John P. Schacht, DO: Provided substantial contributions to the conception and design of the work as well as critical revision for intellectual content.

Elizabeth V. Schulz, MD: Provided substantial contributions to the conception and design of the work as well as critical revision for intellectual content.

Jerri Curtis, MD: Provided substantial contributions to the conception and design of the work as well as critical revision for intellectual content and serves as the senior author.

All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.