Article
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021
Chowdhury Fuad, Wang Lei, Al-Raqad Mohammed, Amor David J, Baxová Alice, Bendová Šárka, Biamino Elisa, Brusco Alfredo, Caluseriu Oana, Cox Nancy J, Froukh Tawfiq, Gunay-Aygun Meral, Hančárová Miroslava, Haynes Devon, Heide Solveig, Hoganson George, Kaname Tadashi, Keren Boris, Kosaki Kenjiro, Kubota Kazuo, Lemons Jennifer M, Magriña Maria A, Mark Paul R, McDonald Marie T, Montgomery Sarah, Morley Gina M, Ohnishi Hidenori, Okamoto Nobuhiko, Rodriguez-Buritica David, Rump Patrick, Sedláček Zdeněk, Schatz Krista, Streff Haley, Uehara Tomoko, Walia Jagdeep S, Wheeler Patricia G, Wiesener Antje, Zweier Christiane, Kawakami Koichi, Wentzensen Ingrid M, Lalani Seema R, Siu Victoria M, Bi Weimin, Balci Tugce B
Abstract excerpt
PURPOSE: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of haploinsufficiency. METHODS: Three individuals with intellectual disability and iris anomalies and truncating de novo PRR12 variants were described previously. We add 21...
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