The author replies

We would like to thank Dr. McNeill for his reflections on “Are Congenital Anomalies of the Kidney and Urinary Tract Part of the of SOX11 Syndrome?”1 We agree that, similarly to the mouse,2,3 SOX11 is unlikely to be expressed in the adult human kidney. However, congenital anomalies of the kidney and urinary tract (CAKUT) syndrome is rooted in kidney for mation, and SOX11 has been recently shown to be dynamically expressed during human kidney development using single-cell RNA sequencing analysis.4 Although to date, patients with neurodevelopmental abnormalities that carry SOX11 mutations have not been reported to have urogenital abnormalities, CAKUT is a highly variable disorder, and subtle renal abnormalities, such as duplex kidneys or mild renal hypoplasia, may have remained undetected.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Letter to the Editor Source Type: research