Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith-Rae Dias, Krystle Standen, Carey-Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung-Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding-Byth, Bekim Sadikovic, Jason Pinner, Michael F Buckley, Tony Roscioli
Heterozygous ARID1B variants result in Coffin-Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to ARID1B loss of function variants. We report a boy with developmental delay, feeding difficulties, aspiration, recurrent respiratory infections, slow growth, and hypotonia without a clinical diagnosis, where a previously unreported ARID1B missense variant was classified as a variant of uncertain significance...
September 2023: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics