Important differential diagnoses are presented and unusual presentations of ABCA 4 disease highlighted. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests. Since the discovery of the ABCA 4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA 4 retinopathy. PMID:18523590Īllelic and Phenotypic Heterogeneity in ABCA 4 mutations Conclusions These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA 4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite. Experimental studies showed that both ABCA 4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.
Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Methods and Findings In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA 4 encoding ATP-binding cassette transporter, subfamily A, member 4. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. Not all children who acquire infection in utero develop these clinical signs of disease. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Blackwell, Jenefer M.īackground Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. Paul, Malgorzata Peyron, François Stray-Pedersen, Babill Prusa, Andrea-Romana Thulliez, Philippe Wallon, Martine Petersen, Eskild McLeod, Rima Gilbert, Ruth E.
Boyer, Kenneth Bessieres, Marie-Hélène Buffolano, Wilma Ferret, Nicole Franck, Jacqueline Kieffer, François Meier, Paul Nowakowska, Dorota E. de Roubaix, Lee-Anne Cortina-Borja, Mario Tan, Hooi Kuan Mui, Ernest J. Genetic and Epigenetic Factors at COL2A1 and ABCA 4 Influence Clinical Outcome in Congenital Toxoplasmosis
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