A Novel NIPBL Variant Causes Cornelia de Lange Syndrome with horseshoe kidney and renal insufficiency: case report and literature review

Abstract Background: Renal involvement is rare reported in Cornelia de Lange Syndrome (CdLS). Herein, we present one male boy who is diagnosed as CdLS that have renal involvement with findings related to the novel NIPBL variant. Case presentation: One male boy was referred to our department because of short stature. He had synophrys with arched and thick eyebrows, long eyelashes, long philtrum. He also had short digits of the thumbs and fifth digits. Renal sonography showed horseshoe kidney. The latest serum creatine was elevated to 64.8umol/L, and eGFR (estimated Glomerular Filtration Rate) was decreased to 76.62 ml/[min·(1.73 m2)] (height=136cm). Then whole-exome sequencing showed a de novo frameshift variant of NIPBL gene (NM_133433.4: exon 47，c.8325_8326delAA，p.K2775Nfs*7) in our patient. He was diagnosed as Cornelia de Lange Syndrome. Conclusions: We described a novel frameshift NIPBL variant that causes non-classical CdLS with horseshoe kidney and renal insufficiency. Malformation of the kidney and urinary tract may also have major clinical implications for the diagnosis and genotype–phenotype correlation of NIPBL need further investigation.