Accession Numbers
The ArrayExpress accession number for the microarray data generated in this paper is E-MTAB-3250, and the RefSNP numbers of the disease-causing mutations are rs727502766 (c.161C>T), rs727502767 (c.172A>G), rs727502768 (c.206C>G), rs727502769 (c.173C>T), rs727502770 (c.176C>A, c.176C>T), and rs727502771 (c.185C>G).

Web Resources
The URLs for data presented herein are as follows:ArrayExpress, http://www.ebi.ac.uk/arrayexpress/
Combined Annotation Dependent Depletion (CADD), http://cadd.gs.washington.edu/
dbNSFP v.2.0, https://sites.google.com/site/jpopgen/dbNSFP
GeneDistiller, http://www.genedistiller.org/
NCBI Gene, http://www.ncbi.nlm.nih.gov/gene
OMIM, http://www.omim.org/
RCSB Protein Data Bank, http://www.rcsb.org/pdb/home/home.do

Supplemental Data
Document S1. Figures S1–S6 and Tables S1–S8
Document S2. Article plus Supplemental Data

Acknowledgments
We are grateful to the individuals and their families who contributed to this study. We thank Serenella Venanzi, Chiara Di Claudio, and Francesca Maiorca (ISS, Rome, Italy) for skillful technical assistance. We acknowledge submission of several DNA samples to the Center for Mendelian Genomics (CMG) in Seattle, WA; disease gene identification occurred prior to and without the use of data from the CMG. We thank BGI (Hong Kong) for the high-quality sequencing raw data. M.T., G.B., and L.S. acknowledge CINECA for computational resources (WES data and structural analyses). This work was supported in part by grants from Telethon (GGP13107 to M.T.), Istituto Superiore di Sanità (Ricerca Corrente 2013 to M.T.), Nemours Foundation (to K.S.-C.) and NIH (P20GM103464 and P20GM103446 to K.S.-C.; P50MH094268 to N.K.), and the financial support from the company BVLGARI. This work is dedicated to the memory of Luciano Cianetti (ISS, Rome, Italy). This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Supplemental data include six figures and eight tables and can be found with this article online at http://dx.doi.org/10.1016/j.ajhg.2015.03.001.