6533b82cfe1ef96bd128fc8d
RESEARCH PRODUCT
Protein Identification and Haplotype Description of Homozygote Mutation Causing Congenital Plasminogen Deficiency
Raquel Rodríguez-lópezFátima Gimeno-ferrerAltea Esteve MartínezAndrés Casanova-esquembreJorge Magdaleno-tapialCarola Guzmán LujánArmando V. Mena DuránMaría Dolores De Las Marinas ÁLvarezLaura Hernandez BelPablo Hernández BelManuel Sánchez Del Pinosubject
Proteïnes de la sangActivadors plasminògensdescription
Severe type I Plasminogen (PLG) deficiency was clinically diagnosed after hyaline-positive periodic acid Schiff material was detected in the histologic study of superior tarsal conjunctiva and vulvar pseudomembrane of the patient. Direct immunofluorescence also confirmed multiple deposits of fibrinogen in the dermis. Plasma plasminogen activity was calculated in a <5% value (reference values, 75% to 150%) and sequencing of the PLG gene evidenced the homozygous mutation in c.2377T/A (p.Tyr793Asn), confirming the molecular diagnosis of congenital deficiency of plasminogen type 1. Genotype-Phenotype correlation among family members evidenced the recessive hereditary pattern of clinical manifestations of chronic inflammatory disease of the mucous membranes due to PLG deficiency, but co-dominance effect to present a decreased plasma plasminogen activity (46%) among heterozygous asymptomatic individuals. SNPs/CNVs whole genome array hybridization analysis in the patient, detected long Loss of Heterozygosity regions (LOH) and demonstrated the consanguinity in the family. Proteomic analysis identified impaired secretion of mutant PLG tissue specific proteins, as definitive molecular etiopathogenesis of the type I PLG deficiency in the patient.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-01-01 |