Article
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2024
Lavillaureix Alinoë, Rollier Paul, Kim Artem, Panasenkava Veranika, De Tayrac Marie, Carré Wilfrid, Guyodo Hélène, Faoucher Marie, Poirel Elisabeth, Akloul Linda, Quélin Chloé, Whalen Sandra, Bos Jessica, Broekema Marjoleine, van Hagen Johanna M, Grand Katheryn, Allen-Sharpley Michelle, Magness Emily, McLean Scott D, Kayserili Hülya, Altunoglu Umut, En Qi Chong Angie, Xue Shifeng, Jeanne Médéric, Almontashiri Naif, Habhab Wisam, Vanlerberghe Clemence, Faivre Laurence, Viora-Dupont Eléonore, Philippe Christophe, Safraou Hana, Laffargue Fanny, Mittendorf Luisa, Abou Jamra Rami, Patil Siddaramappa Jagdish, Dalal Ashwin, Sarma Asodu Sandeep, Keren Boris, Reversade Bruno, Dubourg Christèle, Odent Sylvie, Dupé Valérie
Abstract excerpt
PURPOSE: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants....
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