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.
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We would like to thank the patient for permission to publish this article.
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This work was supported by the Japan Agency for Medical Research and Development (grant number JP23ek0109549 and JP23ek0109672) to Kenjiro Kosaki.
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Watanabe, D., Nakato, D., Yamada, M. et al. SALL4 deletion and kidney and cardiac defects associated with VACTERL association. Pediatr Nephrol 39, 2347–2349 (2024). https://doi.org/10.1007/s00467-024-06306-8
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DOI: https://doi.org/10.1007/s00467-024-06306-8