Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Abstract The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven unrelated families with a variety of overla...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2020-12, Vol.29 (22), p.3662-3678
Hauptverfasser:	Martin, Ella M M A, Enriquez, Annabelle, Sparrow, Duncan B, Humphreys, David T, McInerney-Leo, Aideen M, Leo, Paul J, Duncan, Emma L, Iyer, Kavitha R, Greasby, Joelene A, Ip, Eddie, Giannoulatou, Eleni, Sheng, Delicia, Wohler, Elizabeth, Dimartino, Clémantine, Amiel, Jeanne, Capri, Yline, Lehalle, Daphné, Mory, Adi, Wilnai, Yael, Lebenthal, Yael, Gharavi, Ali G, Krzemień, Grażyna G, Miklaszewska, Monika, Steiner, Robert D, Raggio, Cathy, Blank, Robert, Baris Feldman, Hagit, Milo Rasouly, Hila, Sobreira, Nara L M, Jobling, Rebekah, Gordon, Christopher T, Giampietro, Philip F, Dunwoodie, Sally L, Chapman, Gavin
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Anal Canal - abnormalities Anal Canal - pathology Animals DNA-Binding Proteins - genetics Esophagus - abnormalities Esophagus - metabolism Esophagus - pathology Haploinsufficiency - genetics Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology Heterozygote Humans Kidney - abnormalities Kidney - metabolism Kidney - pathology Limb Deformities, Congenital - genetics Limb Deformities, Congenital - pathology Loss of Function Mutation - genetics Mice RNA Splicing - genetics RNA Splicing Factors - genetics Spine - abnormalities Spine - pathology Trachea - abnormalities Trachea - pathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!