TY - JOUR

T1 - A HGF Mutation in the Familial Case of Primary Lymphedema: A Report

AU - Koksharova, Galina

AU - Kokh, Natalia

AU - Gridina, Maria

AU - Khapaev, Rustam

AU - Nimaev, Vadim

AU - Fishman, Veniamin

N1 - This study was supported by RSF project 22-14-00247.

PY - 2024/5

Y1 - 2024/5

N2 - 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.

AB - 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.

KW - HGF

KW - Meige disease

KW - primary lymphedema

KW - whole-exome sequencing

KW - Adult

KW - Female

KW - Humans

KW - Male

KW - Middle Aged

KW - Hepatocyte Growth Factor/genetics

KW - Lymphedema/genetics

KW - Mutation

KW - Pedigree

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85194219578&origin=inward&txGid=cbed33d119f237f7106534df60005ddc

UR - https://www.mendeley.com/catalogue/d20a46d3-0454-3551-b359-a306615fa0a5/

U2 - 10.3390/ijms25105464

DO - 10.3390/ijms25105464

M3 - Article

C2 - 38791500

VL - 25

JO - International Journal of Molecular Sciences

JF - International Journal of Molecular Sciences

SN - 1661-6596

IS - 10

M1 - 5464

ER -