Whole exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Research & Studies

Whole exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Published October 2018

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Diagnosis Genetics Kidney Whole Exome Sequencing

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Whole exome sequencing identifies FOXP1 variants linked to congenital anomalies of the kidney and urinary tract.

This study used whole exome sequencing (WES) in identifying gene mutations related to congenital anomalies (birth defects) of the kidney and urinary tract. The researchers identified six of the eight individuals with FOXP1 variants as having urinary tract defects. This implicates the FOXP1 gene in the development of the urinary tract.

Published

Published October 2018

Authors

Mir Reza Bekheirnia, MD, FACMG (2018)

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