DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Fiche publication
Date publication
mars 2024
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Lavillaureix A, Rollier P, Kim A, Panasenkava V, De Tayrac M, Carré W, Guyodo H, Faoucher M, Poirel E, Akloul L, Quelin C, Whalen S, Bos J, Broekema M, van Hagen JM, Grand K, Allen-Sharpley M, Magness E, McLean S, Kayserili H, Altunoglu U, En Qi Chong A, Xue S, Jeanne M, Almontashiri N, Habhab W, Vanlerberghe C, Faivre L, Viora Dupont E, Philippe C, Safraou H, Laffargue F, Mittendorf L, Abou Jamra R, Patil SJ, Dalal A, Sarma AS, Keren B, Reversade B, Dubourg C, Odent S, Dupé V
Lien Pubmed
Résumé
DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog (SHH), 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 DISP1 variants.
Mots clés
SHH, congenital nasal piriform aperture stenosis, holoprosencephaly, midline defects, solitary median maxillary central incisor
Référence
Genet Med. 2024 03 23;:101126