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- Title
SALL4 deletion and kidney and cardiac defects associated with VACTERL association.
- Authors
Watanabe, Daisuke; Nakato, Daisuke; Yamada, Mamiko; Suzuki, Hisato; Takenouchi, Toshiki; Miya, Fuyuki; Kosaki, Kenjiro
- Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) can be a part of the VACTERL association, which represents the non-random combination of the following congenital anomalies: vertebral anomalies, anal anomalies, cardiac anomalies, tracheal-esophageal anomalies, kidney anomalies, and limb anomalies. VACTERL association is generally considered to be a non-genetic condition. Exceptions include a patient with a heterozygous nonsense SALL4 variant and anal stenosis, tetralogy of Fallot, sacro-vertebral fusion, and radial and thumb anomalies. SALL4 encodes a transcription factor that plays a critical role in kidney morphogenesis. Here, we report a patient with VACTERL association and a heterozygous 128-kb deletion spanning SALL4 who presented with renal hypoplasia, radial and atrio-septal defects, and patent ductus arteriosus. The present report of SALL4 deletion, in addition to a previously reported patient with VACTERL association phenotype and SALL4 nonsense mutation, further supports the notion that SALL4 haploinsufficiency can lead to VACTERL association.
- Subjects
ABNORMALITIES in the anatomical extremities; URINARY organ abnormalities; KIDNEY abnormalities; CONGENITAL heart disease; ATRIAL septum; PATENT ductus arteriosus; GENETIC mutation; MULTIPLE human abnormalities; PHENOTYPES
- Publication
Pediatric Nephrology, 2024, Vol 39, Issue 8, p2347
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-024-06306-8