Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

Affiliations

• ¹ Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
• ² CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
• ³ Division of Dermatology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
• ⁴ CHU Nantes, Service de Dermatologie, Nantes, France.
• ⁵ CHU Toulouse, Hôpital Purpan, Laboratoire de Biologie Cellulaire et Cytologie, Institut Fédératif de Biologie, Toulouse, France; Infinity, University of Toulouse, CNRS, INSERM, Université Paul Sabatier, Toulouse, France.
• ⁶ Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand. Electronic address: [email protected].