Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES) Benedikt D. Spielberger, Cristina.

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Presentation transcript:

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES) Benedikt D. Spielberger, Cristina Woellner, MSc, Gregor Dueckers, MD, Julie Sawalle-Belohradsky, Beate Hagl, PhD, Katja Anslinger, MD, Birgit Bayer, Kathrin Siepermann, MD, Tim Niehues, MD, Bodo Grimbacher, MD, Bernd H. Belohradsky, MD, Ellen D. Renner, MD Journal of Allergy and Clinical Immunology Volume 130, Issue 6, Pages 1426-1428 (December 2012) DOI: 10.1016/j.jaci.2012.07.030 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Pedigree of the family. The index patient (subject II.1), as well as her 2 half brothers (individuals II.2 and II.3), are shown as solid symbols, which indicate affected subjects. Open symbols present unaffected subjects with the wild-type sequence (individuals I.1 and I.3), whereas the striped symbol reflects the mosaicism of individual II.2. Squares indicate male individuals, and circles indicate female individuals. Journal of Allergy and Clinical Immunology 2012 130, 1426-1428DOI: (10.1016/j.jaci.2012.07.030) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Mutation analysis of affected family members. Mutation analysis of individual II.2 shows the wild-type sequence of gDNA isolated from peripheral blood and mucosal cells. The gDNA of individual II.2 isolated from semen carries the heterozygous STAT3 mutation c.1145G>A, R382Q, which has been identified in all his clinically affected offspring (individuals II.1-II.3). Journal of Allergy and Clinical Immunology 2012 130, 1426-1428DOI: (10.1016/j.jaci.2012.07.030) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions