Details

Autor(en) / Beteiligte

• Bick, David
• Fraser, Pamela C.
• Gutzeit, Michael F.
• Harris, Jeremy M.
• Hambuch, Tina M.
• Helbling, Daniel C.
• Jacob, Howard J.
• Kersten, Juliet N.
• Leuthner, Steven R.
• May, Thomas
• North, Paula E.
• Prisco, Sasha Z.
• Schuler, Bryce A.
• Shimoyama, Mary
• Strong, Kimberly A.
• Van Why, Scott K.
• Veith, Regan
• Verbsky, James
• Weborg, Arthur M.
• Wilk, Brandon M.
• Willoughby, Rodney E.
• Worthey, Elizabeth A.
• Dimmock, David P.

Titel

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

Ist Teil von

• Journal of pediatric genetics (Birmingham, Ala.), 2017-06, Vol.6 (2), p.061-076

Ort / Verlag

Stuttgart · New York: Georg Thieme Verlag KG

Erscheinungsjahr

2017

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Abstract A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with subsequent reanalysis, this increased to 36% (8/22). Disease causing variants were identified in SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, and BCS1L. In 75% (6/8) of diagnosed cases, the diagnosis affected treatment and/or medical surveillance. Additionally, one case demonstrated a homozygous A18V variant in VLDLR that appears to be associated with a previously undescribed phenotype.