{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Li Q"],"funding":["NIDDK NIH HHS","Office of Extramural Research, National Institutes of Health","NHGRI NIH HHS"],"pagination":["1102-1117"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8076076"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["99(5)"],"pubmed_abstract":["Focal segmental glomerulosclerosis (FSGS) is a podocytopathy leading to kidney failure, whose molecular cause frequently remains unresolved. Here, we describe a rare MYO9A loss of function nonsense heterozygous mutation (p.Arg701<sup>∗</sup>) as a possible contributor to disease in a sibling pair with familial FSGS/proteinuria. MYO9A variants of uncertain significance were identified by whole exome sequencing in a cohort of 94 biopsy proven patients with FSGS. MYO9A is an unconventional myosin with a Rho-GAP domain that controls epithelial cell junction assembly, crosslinks and bundles actin and deactivates the small GTPase protein encoded by the RHOA gene. RhoA activity is associated with cytoskeleton regulation of actin stress fiber formation and actomyosin contractility. Myo9A was detec"],"journal":["Kidney international"],"pubmed_title":["Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis."],"pmcid":["PMC8076076"],"funding_grant_id":["R01 DK109434","U54 HG006504"],"pubmed_authors":["Bale A","Tufro A","Li Q","Gulati A","Lemaire M","Nottoli T"],"additional_accession":[]},"is_claimable":false,"name":"Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis.","description":"Focal segmental glomerulosclerosis (FSGS) is a podocytopathy leading to kidney failure, whose molecular cause frequently remains unresolved. Here, we describe a rare MYO9A loss of function nonsense heterozygous mutation (p.Arg701<sup>∗</sup>) as a possible contributor to disease in a sibling pair with familial FSGS/proteinuria. MYO9A variants of uncertain significance were identified by whole exome sequencing in a cohort of 94 biopsy proven patients with FSGS. MYO9A is an unconventional myosin with a Rho-GAP domain that controls epithelial cell junction assembly, crosslinks and bundles actin and deactivates the small GTPase protein encoded by the RHOA gene. RhoA activity is associated with cytoskeleton regulation of actin stress fiber formation and actomyosin contractility. Myo9A was detec","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2026-05-31T21:55:49.108Z","creation":"2025-02-18T23:32:11.851Z"},"accession":"S-EPMC8076076","cross_references":{"pubmed":["33412162"],"doi":["10.1016/j.kint.2020.12.022"]}}