The Role of Mutations on Gene WDR73 in Galloway-Mowat Syndrome

Shahin Asadi

Review Article

The Role of Mutations on Gene WDR73 in Galloway-Mowat Syndrome

Shahin Asadi*, Shima Dolabi, Mahtab Farrash Bashi

Division of Medical Genetics and Molecular Pathology Research, Harvard University, Boston Children’s Hospital, USA

Corresponding Author

Received Date: December 01, 2021; Published Date: December 08, 2021

Abstract

Galloway-Mowat syndrome is a very rare genetic disorder characterized by a variety of physical and developmental abnormalities, especially neurological abnormalities and progressive primary kidney disease. Physical characteristics may include microcephaly (a condition that indicates that the size of the head circumference is significantly smaller than expected for the child’s age and sex) and, in some cases, protrusion of part of the stomach through an abnormal opening in the diaphragm. Galloway-Mowat syndrome is caused by changes (mutations) in the WDR73 gene in a subset of cases.

Keywords: Galloway-Mowat syndrome; Rare genetic disorder; WDR73 gene

Article Details

Citation

Shahin Asadi, Shima Dolabi, Mahtab Farrash Bashi. The Role of Mutations on Gene WDR73 in Galloway-Mowat Syndrome. Arch Biomed Eng & Biotechnol. 6(3): 2021. ABEB.MS.ID.000636. DOI: 10.33552/ABEB.2021.06.000636.

Keywords