X-linked variations in SHROOM4 are implicated in multiple congenital anomalies of the urinary tract, the anorectal, the cardiovascular, and the central nervous system

So far, variants in SHROOM4 have been associated with Stocco dos Santos syndrome, a neurodevelopmental disorder. Our report expands the clinical spectrum related to SHROOM4 variation: We identified single nucleotide variants and microdeletions in SHROOM4 in six individuals from four families, presenting with congenital anomalies of the urinary tract, the anorectum, the heart, and the central nervous system. Expression analyses in embryonic mouse and zebrafish support a role of Shroom4 in the development of the respective organs. Shroom4 knockdown in zebrafish revealed a multiorgan phenotype, resembling the human phenotype. The present study shows that SHROOM4 plays a key role not only in the development of the nervous system, but also of the urinary tract, the anorectum, and the heart. (By Dr. med. Gabriel Dworschak, https://jmg.bmj.com/content/early/2022/11/15/jmg-2022-108738 )

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