A dominant mutation in nuclear receptor interacting protein 1 causes urinary tract malformations via dysregulation of retinoic acid signaling
A Vivante, N Mann, H Yonath, AC Weiss… - Journal of the …, 2017 - journals.lww.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause
of CKD in the first three decades of life. However, for most patients with CAKUT, the
causative mutation remains unknown. We identified a kindred with an autosomal dominant
form of CAKUT. By whole-exome sequencing, we identified a heterozygous truncating
mutation (c. 279delG, p. Trp93fs*) of the nuclear receptor interacting protein 1 gene (NRIP1)
in all seven affected members. NRIP1 encodes a nuclear receptor transcriptional cofactor …
of CKD in the first three decades of life. However, for most patients with CAKUT, the
causative mutation remains unknown. We identified a kindred with an autosomal dominant
form of CAKUT. By whole-exome sequencing, we identified a heterozygous truncating
mutation (c. 279delG, p. Trp93fs*) of the nuclear receptor interacting protein 1 gene (NRIP1)
in all seven affected members. NRIP1 encodes a nuclear receptor transcriptional cofactor …
