Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

"the clinvar database ( https://www ncbi nlm nih gov/clinvar/ ) reports11 missense variants in ptchd1 involving amino acids included in the first extracellular loop (amino acids43-271) whereas only two missense variants are referenced in the second extracellular loop (amino acids521-695).; the novel genetic (unpublished) variants of ptchd1 have been submitted to the clinvar database with the respective accession numbers ( https://www ncbi nlm nih gov/clinvar/ ): scv000890036 1 for p(pro32leu) sub954148 for p(pro32arg) scv001428357 for p(gly300arg) vcv000988746 1 for p(tyr213cys) and vcv000978387 1 for p(ala310pro)."

"CONFLICT OF INTERESTS The authors declare that there are no conflict of interests."

"The authors would like to thank the patients and their families for their participation in the study. The authors thank Nadine Marmin and Benoit Dessay for their technical assistance in mutagenesis experimental work. The authors also thank the “IBiSA Electron Microscopy Facility” of the University of Tours for management and access to the confocal microscopy platform. This study was funded by the Association pour le Développement de la Neurogénétique (ADN) and the Fondation de France (Grant numbers 2021‐3362 and 00089599), the Agence Nationale pour la Recherche (Grant number ANR‐20‐CE17‐0006) to Frédéric Laumonnier, and the Institut National de la Santé et de la Recherche Médicale (Inserm) for providing material support."