Mythily Ganapathi, Christie M Buchovecky, Fernando Cristo, Priyanka Ahimaz, Carrie Ruzal-Shapiro, Karen Wou, José M Inácio, Alejandro Iglesias, José A Belo, Vaidehi Jobanputra
The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in over fifty genes are known to causeheterotaxy. A heterozygous missense variant in DAND5, a nodal inhibitor, which functions in early development for establishment of right-left patterning, has been implicated in heterotaxy. Recently, Bolkier et al 2021, reported the first case of DAND5 biallelic loss of function (LoF) variant in an individual with heterotaxy. Here, we describe a second unrelated individual with heterotaxy syndrome and a homozygous frameshift variant in DAND5 (NM_152654...
October 31, 2022: Cold Spring Harbor Molecular Case Studies