Alanna Strong, Michael E March, Christopher J Cardinale, Sophia E Kim, Jamie Merves, Hilary Whitworth, Leslie Raffini, Christopher Larosa, Lawrence Copelovitch, Cuiping Hou, Diana Slater, Courtney Vaccaro, Deborah Watson, Elaine H Zackai, Jeffrey Billheimer, Hakon Hakonarson
Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X-linked disorder caused by pathogenic variants in membrane-bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intellectual disability and multiple congenital anomalies. Here we present a patient with ichthyosis, sparse hair, pulmonic stenosis, kidney dysplasia, hypospadias, growth failure, thrombocytopenia, anemia, bone marrow fibrosis, and chronic diarrhea found by research-based exome sequencing to harbor a novel, maternally inherited MBTPS2 missense variant (c...
October 15, 2021: American Journal of Medical Genetics. Part A