Laurens Hannes, Marta Atzori, Alice Goldenberg, Jesús Argente, Tania Attie-Bitach, Jeanne Amiel, Catia Attanasio, Débora G Braslavsky, Ange-Line Bruel, Mireille Castanet, Christèle Dubourg, An Jacobs, Stanislas Lyonnet, Julian Martinez-Mayer, María Inés Pérez Millán, Nunziana Pezzella, Elise Pelgrims, Mio Aerden, Marijke Bauters, Anne Rochtus, Paula Scaglia, Ann Swillen, Alejandro Sifrim, Roberta Tammaro, Frederic Tran Mau-Them, Sylvie Odent, Christel Thauvin-Robinet, Brunella Franco, Jeroen Breckpot
PURPOSE: Oral-facial-digital (OFD) syndromes are genetically heterogeneous developmental disorders, caused by pathogenic variants in genes involved in primary cilia formation and function. We identified a previously undescribed type of OFD with brain anomalies, ranging from alobar holoprosencephaly to pituitary anomalies, in 6 unrelated families. METHODS: Exome sequencing of affected probands was supplemented with alternative splicing analysis in patient and control lymphoblastoid and fibroblast cell lines, and primary cilia structure analysis in patient fibroblasts...
December 26, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics