The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110
Centre for Vascular Research, University of New South Wales, Sydney, Australia. Prenatal Diagnosis
(Impact Factor: 3.27).
07/2007; 27(7):674-6. DOI: 10.1002/pd.1759
We present the first prenatal diagnosis of familial hepatic veno-occlusive disease with immunodeficiency (VODI). Homozygous mutations in the gene SP110 are the genetic basis of VODI. The proband in this report presented at three months of age with hepatomegaly hepatic failure and was found to have hypogammaglobulinemia. He died one month after hepatic transplant at eight months of age due to hemophagocytic syndrome. DNA testing detected a homozygous truncating mutation in exon 5; SP110 c.642delC. Prenatal testing was offered to this family in a subsequent pregnancy.
Chorion villus was sampled at 12 weeks' gestation. DNA was extracted using standard techniques, and sequencing of SP110 exon 5 was performed using flanking primers. Maternal contamination was excluded by examining STR markers in CVS and maternal DNA.
A heterozygous SP110 c.642delC mutation was detected in exon 5. This mutation was present in heterozygous form in both parents.
The prenatal test result is predictive of a child with a normal immune and hepatic phenotype. This report presents the first prenatal molecular diagnosis for VODI and shows the importance of molecular genetic research in not only defining the aetiology of syndromes but also in assisting reproductive choices through the collaboration of genetic and feto-maternal services.
Available from: Mauno Vihinen
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ABSTRACT: The classification of diseases has several important applications ranging from diagnosis and choice of treatment to demographics. To date, classifications have been successfully created manually, often within international consortia. Some groups of diseases, such as primary immunodeficiencies (PIDs), are especially hard to nosologically cluster due, on one hand, to the presence of a wide variety of disorders and, in contrast, because of overlapping characteristics. More than 200 PIDs affecting components of the innate and adaptive immune systems have been described. Clinical, pathological, and laboratory characteristics were collected and used to group PIDs. A consensus of at least five independent methods provided a novel classification of 11 groups, which revealed previously unknown features and relationships of PIDs. Comparison of the classification to independent features, including the severity and therapy of the diseases, functional classification of proteins, and network vulnerability, indicated a strong statistical support. The method can be applied to any group of diseases.
The Journal of Immunology 11/2009; 183(11):7569-75. DOI:10.4049/jimmunol.0901837 · 4.92 Impact Factor
Genetic Disorders and the Fetus, Sixth Edition, 05/2010: pages 380 - 444; , ISBN: 9781444314342
Journal of pediatric gastroenterology and nutrition 09/2011; 53(3):346-9. DOI:10.1097/MPG.0b013e318211c581 · 2.63 Impact Factor
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