Article
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
American journal of human genetics - 3 Dec 2015
O'Rawe Jason A, Wu Yiyang, Dörfel Max J, Rope Alan F, Au P Y Billie, Parboosingh Jillian S, Moon Sungjin, Kousi Maria, Kosma Konstantina, Smith Christopher S, Tzetis Maria, Schuette Jane L, Hufnagel Robert B, Prada Carlos E, Martinez Francisco, Orellana Carmen, Crain Jonathan, Caro-Llopis Alfonso, Oltra Silvestre, Monfort Sandra, Jiménez-Barrón Laura T, Swensen Jeffrey, Ellingwood Sara, Smith Rosemarie, Fang Han, Ospina Sandra, Stegmann Sander, Den Hollander Nicolette, Mittelman David, Highnam Gareth, Robison Reid, Yang Edward, Faivre Laurence, Roubertie Agathe, Rivière Jean-Baptiste, Monaghan Kristin G, Wang Kai, Davis Erica E, Katsanis Nicholas, Kalscheuer Vera M, Wang Edith H, Metcalfe Kay, Kleefstra Tjitske, Innes A Micheil, Kitsiou-Tzeli Sophia, Rosello Monica, Keegan Catherine E, Lyon Gholson J
Abstract excerpt
We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected...
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