A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case

Abstract

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) is a rare autosomal dominant disorder and variants in PBX1 are involved in the etiology of this syndrome. Precise diagnosis is difficult without genetic test. We described a Chinese CAKUTHED patient, whose characteristics were collected from medical records. The potential responsible variants were explored by whole exome sequencing. A heterozygous variant in the PBX1 gene (NM_002585 c.862C>T, p.R288*) was found in the proband, which was confirmed by Sanger sequencing. This heterozygous variant in the PBX1 gene was the molecular pathogenic basis of this disorder. It is necessary to perform a genetic test for diagnosing chronic nephritis with unknown reason.

Keywords: CAKUTHED; Case report; PBX1; Pathogenic variant; Whole exome sequencing.