Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

ABSTRACT:

Background

Congenital anomalies of the kidney and urinary tract (CAKUT) cover a spectrum of structural malformations that result from aberrant morphogenesis of kidney and urinary tract. It is the most prevalent cause of kidney failure in children. Hence, it is important from a clinical perspective to unravel the molecular etiology of kidney and urinary tract malformations. Causal variants in genes that direct various stages of development of kidney and urinary tract in fetal life have been identified in 5-20% of CAKUT patients from Western countries. Recent advances in next generation sequencing technology and decreasing cost offer the opportunity to characterize the genetic profile of CAKUT in Indian population and facilitate integration of genetic diagnostics in care of children

SUBMITTER: Narikot A 

PROVIDER: S-EPMC8722277 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature