P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, Jeroen Breckpot, Koenraad Devriendt, Klaas Wierenga, Elizabeth Fanning, Dorothy K Grange, Gail E Graham, Carolina Galarreta, Marilyn C Jones, Usha Kini, Helen Stewart, Jillian S Parboosingh, Antonie D Kline, A Micheil Innes
Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K), and to date, only four of these patients have been described in the literature. Recently, an additional patient with a missense variant in HNRNPK was also reported. These patients have striking facial dysmorphic features, including long palpebral fissures, ptosis, deeply grooved tongue, broad nose, and down-turned mouth...
June 14, 2018: European Journal of Human Genetics: EJHG