Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene

• Published in: European journal of medical genetics Vol. 72; p. 104980
• Main Authors: Martín Gómez, María Adoración, Caba Molina, Mercedes, León Fradejas, Miriam, Alonso Titos, Juana, del Pozo Alvarez, Rafael
• Format: Journal Article
• Language: English
• Published: Elsevier Masson SAS 01-12-2024
• Subjects: Familial nephropathy; Focal segmental glomerulosclerosis; LMX1B gen; Missense mutation; Familial nephropathy; Missense mutation; Focal segmental glomerulosclerosis; LMX1B gen
• ISSN: 1769-7212; 1878-0849; 1878-0849
• DOI: 10.1016/j.ejmg.2024.104980

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.