Yuksel-Vogel-Bauer syndrome (YUVOB) is a multisystemic disorder caused by mutations in DLG5. Patients have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. DLG5 is a member of the membrane-associated guanylate kinase family of proteins and participates in regulation of Hippo, sonic Hedgehog, and TGF beta signaling.
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK
タイトル
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
