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The New England Journal of Medicine

PROTHROMBIN AND FACTOR V MUTATIONS IN WOMEN WITH A HISTORY OFPROTHROMBIN AND FACTOR V MUTATIONS IN WOMEN WITH A HISTORY OFTHROMBOSIS DURING PREGNANCY AND THE PUERPERIUM

ANDREA GERHARDT, M.D., RÜDIGER EBERHARD SCHARF, M.D., MATTHIAS WILHELM BECKMANN, M.D., SABINE STRUVE, B.S., HANS GEORG BENDER, M.D., MICHAEL PILLNY, M.D., WILHELM SANDMANN, M.D., AND
RAINER BERND ZOTZ, M.D.

BLOOD, 10 NOVEMBER 2016 x VOLUME 128, NUMBER 19

THROMBOSIS AND HEMOSTASIS
HEREDITARY RISK FACTORS FOR THROMBOPHILIA AND PROBABILITY OF VENOUS THROMBOEMBOLISM DURING PREGNANCY AND THE PUERPERIUM
Andrea Gerhardt, 1,2 Rüdiger E. Scharf, 2 Ian A. Greer, 3 and Rainer B. Zotz 2,4

1 Blutgerinnung Ulm, Ulm, Germany;
2 Department of Haemostasis, Haemotherapy and Transfusion Medicine, Heinrich Heine University Medical Centre, Düsseldorf, Germany;
3 Faculty of Biology Medicine and Health, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom;
4 Institute for Laboratory Medicine, Blood Coagulation and Transfusion Medicine, Düsseldorf, Germany

Veröffentlichung: US National Library of Medicine National Institutes of Health - Dr. med. Robert Maiwald, u.a.

SHORT REPORT

THE POWER OF THE MEDIATOR COMPLEX—EXPANDING THE GENETIC ARCHITECTURE AND PHENOTYPIC SPECTRUM OF MED12-RELATED DISORDERS

Charzewska A1, Maiwald R2, Kahrizi K3, Oehl-Jaschkowitz B4, Dufke A5, Lemke JR5,6, Enders H5,7, Najmabadi H3, Tzschach A5,8, Hachmann W9, Jensen C10,11, Bienek M10, Poznański J12, Nawara M1, Chilarska T13, Obersztyn E1, Hoffman-Zacharska D1, Gos M1, Bal J1, Kalscheuer VM14.
Author information
 
Abstract
MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene expression and lead to at least three distinct X-linked intellectual disability syndromes (FG, Lujan-Fryns, and Ohdo). Here, we describe six families with missense variants in MED12 (p.(Arg815Gln), p.(Val954Gly), p.(Glu1091Lys), p.(Arg1295Cys), p.(Pro1371Ser), and p.(Arg1148His), the latter being first reported in affected females) associated with a continuum of symptoms rather than distinct syndromes. The variants expanded the genetic architecture and phenotypic spectrum of MED12-related disorders. New clinical symptoms included brachycephaly, anteverted nares, bulbous nasal tip, prognathism, deep set eyes, and single palmar crease. We showed that MED12 variants, initially implicated in X-linked recessive disorders in males, may predict a potential risk for phenotypic expression in females, with no correlation of the X chromosome inactivation pattern in blood cells. Molecular modeling (Yasara Structure) performed to model the functional effects of the variants strongly supported the pathogenic character of the variants examined. We showed that molecular modeling is a useful method for in silico testing of the potential functional effects of MED12 variants and thus can be a valuable addition to the interpretation of the clinical and genetic findings.

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Hat der Bundestag da was nicht mitgekriegt?

Mamas Blut, Babys Gene: Im Mutterleib Behinderungen aufspüren – längst geht das für mehr als nur das Down-Syndrom. Debattiert wird aber, als sei die Medizin von gestern.
Eine Analyse von Ulrich Bahnsen in der ZEIT ONLINE vom 11. April 2019

Das Erbgut eines Babys im Mutterleib untersuchen? Dazu genügt oft das Blut der Schwangeren. So lässt sich gut neun Wochen nach der Zeugung anhand einer Blutprobe testen, ob das Ungeborene das Down-Syndrom hat.
Am Donnerstag debattiert der Bundestag nochmals öffentlich die Frage, der ZEIT ONLINE einen Schwerpunkt gewidmet hat: Sollen Kassen den Bluttest auf Down-Syndrom zahlen?

Den vollständigen Artikel lesen Sie hier.