A Novel LAMA5 Variant in Adult-Onset Focal Segmental Glomerulosclerosis: A Case Report.
- 1Department of Internal Medicine King Abdullah Medical City Mecca Makkah Province Saudi Arabia kamc.med.sa.
- 2Department of Laboratory King Abdullah Medical City Mecca Makkah Province Saudi Arabia kamc.med.sa.
Abstract
Focal segmental glomerulosclerosis (FSGS) is a common histopathological diagnosis among adult patients presenting with nephrotic syndrome. This pattern is associated with diverse underlying pathophysiological mechanisms, which may influence disease management, therapeutic response, and prognosis. Genetic forms of FSGS are caused by variants in genes encoding proteins expressed in podocytes or the glomerular basement membrane. Multiple genes have been implicated in the pathogenesis of genetic FSGS, and clinical presentation can vary depending on the specific gene involved. We report the case of a young man with nephrotic syndrome and a histopathological diagnosis of FSGS, in whom genetic testing identified a novel LAMA5 c.6940C > T p.(Arg2314Trp) variant in a consanguineous Saudi family, consistent with autosomal recessive inheritance. Family genetic analysis revealed that the proband's mother and two siblings are homozygous for the identified variant, whereas his father and the remaining two siblings are heterozygous. The variant is currently classified as a variant of uncertain significance (VUS). This report characterizes the associated clinical phenotype and discusses the findings of family segregation analysis in the context of variable expressivity and incomplete penetrance.
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BibTeX
@article{dahlan2026novel,
title = {{A Novel LAMA5 Variant in Adult-Onset Focal Segmental Glomerulosclerosis: A Case Report.}},
author = {Randah Abdullah Dahlan and Roaa Hani Fairoozy},
journal = {Case reports in genetics},
year = {2026},
month = oct,
doi = {10.1155/crig/7603821},
url = {https://europepmc.org/article/MED/42894854},
note = {CC BY},
}
RIS
TY - JOUR
TI - A Novel LAMA5 Variant in Adult-Onset Focal Segmental Glomerulosclerosis: A Case Report.
AU - Randah Abdullah Dahlan
AU - Roaa Hani Fairoozy
PY - 2026
DA - 2026/10/18
JO - Case reports in genetics
DO - 10.1155/crig/7603821
UR - https://europepmc.org/article/MED/42894854
AB - Focal segmental glomerulosclerosis (FSGS) is a common histopathological diagnosis among adult patients presenting with nephrotic syndrome. This pattern is associated with diverse underlying pathophysiological mechanisms, which may influence disease management, therapeutic response, and prognosis. Genetic forms of FSGS are caused by variants in genes encoding proteins expressed in podocytes or the glomerular basement membrane. Multiple genes have been implicated in the pathogenesis of genetic FSGS, and clinical presentation can vary depending on the specific gene involved. We report the case of a young man with nephrotic syndrome and a histopathological diagnosis of FSGS, in whom genetic testing identified a novel LAMA5 c.6940C > T p.(Arg2314Trp) variant in a consanguineous Saudi family, consistent with autosomal recessive inheritance. Family genetic analysis revealed that the proband's mother and two siblings are homozygous for the identified variant, whereas his father and the remaining two siblings are heterozygous. The variant is currently classified as a variant of uncertain significance (VUS). This report characterizes the associated clinical phenotype and discusses the findings of family segregation analysis in the context of variable expressivity and incomplete penetrance.
SN - 2090-6544
SN - 2090-6552
ER -