Work

Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene

Year: 2024

Type: article

Abstract: A 50-year-old woman presented with nephrotic proteinuria and preserved glomerular filtration rate. A renal biopsy showed focal segmental glomerulosclerosis (FSGS) and glomerular basement membrane thinning. Her brother has a long history of chronic kidney disease, formerly diagnosed with minimal change disease, and eventually received a kidney allograft, developing high-grade proteinuria and decline in kidney function. FSGS was found by biopsy. Lastly, one paternal uncle suffered from the same condition, but he declined a biopsy. A genetic test identified a novel missense mutation in LMX1B, c.349G > A:p(Gly117Ser). Thus, the present series of cases shows a familial LMX1B-associated nephropathy presenting with FSGS.

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2024.104980

Authors: María Adoración Martín Gómez, Mercedes Caba Molina, Miriam León Fradejas, Juana Alonso Titos, Rafael del Pozo Alvarez

Institutions: Hospital de Poniente, Hospital Regional Universitario de Málaga, Hospital Doctor José Molina Orosa

Language: English

Topic: Renal Diseases and Glomerulopathies

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,800