Article
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Human molecular genetics - 1 Feb 2018
Hartill Verity L, van de Hoek Glenn, Patel Mitali P, Little Rosie, Watson Christopher M, Berry Ian R, Shoemark Amelia, Abdelmottaleb Dina, Parkes Emma, Bacchelli Chiara, Szymanska Katarzyna, Knoers Nine V, Scambler Peter J, Ueffing Marius, Boldt Karsten, Yates Robert, Winyard Paul J, Adler Beryl, Moya Eduardo, Hattingh Louise, Shenoy Anil, Hogg Claire, Sheridan Eamonn, Roepman Ronald, Norris Dominic, Mitchison Hannah M, Giles Rachel H, Johnson Colin A
Abstract excerpt
DNAAF1 (LRRC50) is a cytoplasmic protein required for dynein heavy chain assembly and cilia motility, and DNAAF1 mutations cause primary ciliary dyskinesia (PCD; MIM 613193). We describe four families with DNAAF1 mutations and complex congenital heart disease (CHD). In three families, all affected individuals have typical PCD phenotypes. However, an additional family demonstrates isolated CHD (heterotaxy) in two...
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