A IHGF/I Mutation in the Familial Case of Primary Lymphedema: A Report

Lymphedema is a disorder that leads to excessive swelling due to lymphatic insufficiency, resulting in the accumulation of protein-rich interstitial fluid. Primary lymphedema predominantly impacts the lower extremities and is frequently linked to hereditary factors. This condition is known to be ass...

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Bibliographic Details
Published in:International journal of molecular sciences 2024-05, Vol.25 (10)
Main Authors: Koksharova, Galina, Kokh, Natalia, Gridina, Maria, Khapaev, Rustam, Nimaev, Vadim, Fishman, Veniamin
Format: Article
Language:English
Subjects:
Genetic aspects
Lymphedema
Online Access:Get full text
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Summary:Lymphedema is a disorder that leads to excessive swelling due to lymphatic insufficiency, resulting in the accumulation of protein-rich interstitial fluid. Primary lymphedema predominantly impacts the lower extremities and is frequently linked to hereditary factors. This condition is known to be associated with variants in several genes, such as FOXC2, FLT4, and SOX18. However, many cases remain unexplained, suggesting undiscovered gene associations. This study describes a novel mutation in the hepatocyte growth factor (HGF) gene, a previously hypothesized candidate for lymphedema pathogenesis. This mutation was identified in affected members of a multigenerational family presenting with primary leg lymphedema, consistent with an autosomal dominant inheritance pattern.
ISSN:1422-0067
DOI:10.3390/ijms25105464