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Article

Genomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.

International journal of molecular sciences - 10 Nov 2024

Hummadi Abdulrahman, Yafei Saeed, Mutawwam Dhayf Alrahman, Abutaleb Raed, Solan Yahia, Khawaji Abdullah, Alhagawy Ali Jaber, Algohani Turki, Khardali Mamdouh, Hakami Mohammed, Daghriri Abdulrraheem, Hezam Wegdan, Kariri Nourah

Abstract excerpt

Familial partial lipodystrophies (FPLDs) are very rare inherited disorders characterized by partial loss of adipose tissue from the upper and lower extremities. At least seven subtypes of FPLD have been identified and are mostly dominantly inherited. FPLD type 3 is caused by mutations in the PPARγ gene, which encodes for the protein peroxisome proliferator-activated receptor gamma (PPARγ). We identified a Saudi...

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Identifiers

PMID: 39596129
DOI: 10.3390/ijms252212060
PMCID: PMC11593357

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