Renal Tubular Dysgenesis Associated with Compound Heterozygous ACE Mutations


Inherited renal tubular dysgenesis(RTD), a rare, autosomal recessive disorder is caused by mutations in the genes encoding components of the renin-angiotensin pathway: angiotensinogen(AGT), renin (REN), angiotensin-converting enzyme(ACE), and angiotensin ?? receptor type 1(AGTR1). It characterized by the absence or poor development of renal tubules, and associated with oligohydramnios, Potter sequence and neonatal death due to renal or respiratory failure. We report a family with two mutations in the coding region of the ACE gene: a nonsense mutation in exon4 (c.538C>T) and a frameshift deletion at nucleotide 3073 and nucleotide 3074 in exon20(c.3073_3074delTC). The mutations were in the compound heterozygous state causing disease, because each parent had their own  mutation.