Details

Autor(en) / Beteiligte

• Spielberger, Benedikt D
• Woellner, Cristina, MSc
• Dueckers, Gregor, MD
• Sawalle-Belohradsky, Julie
• Hagl, Beate, PhD
• Anslinger, Katja, MD
• Bayer, Birgit
• Siepermann, Kathrin, MD
• Niehues, Tim, MD
• Grimbacher, Bodo, MD
• Belohradsky, Bernd H., MD
• Renner, Ellen D., MD

Titel

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

Ist Teil von

• Journal of allergy and clinical immunology, 2012-12, Vol.130 (6), p.1426-1428

Ort / Verlag

United States: Mosby, Inc

Erscheinungsjahr

2012

Quelle

MEDLINE

Beschreibungen/Notizen

• To confirm STAT3-HIES, sequencing of the gene STAT3 was performed by using the Sanger technique with genomic DNA (gDNA) extracted from peripheral blood, as described previously.4 The heterozygous mutation c.1145G>A, p.R382Q in exon 13 of the STAT3 gene, was found in the 3 children (Fig 2), whereas the parents (individuals I.1, I.2, and I.3) had the wild-type sequence for exon 13. Because it did not seem likely that all 3 children had independent and sporadic identical mutations, gDNA from the semen and oral mucosa of individual I.2 was extracted with a Biorobot EZ1 forensic card (Qiagen, Hilden, Germany).5 The mutation was not found in the oral mucosa gDNA, but the heterozygous R382Q mutation of the gene STAT3 was identified in the genetic material extracted from the semen (Fig 2). [...]the risk of subsequent offspring being affected with the same condition is thought to be negligible.