A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T ‐cell dysfunction

ConclusionsWe report a novel primary immunodeficiency, and a differential molecular diagnosis to CXCR4‐, DOCK8‐, GATA2‐, MAGT1‐, MCM4‐, STK4‐, RHOH‐, TMC6‐, and TMC8‐related diseases. The specific variant may represent a Norwegian founder variant segregating on a population‐specific haplotype. A likely Norwegian founder variant was detected by exome sequencing in four patients from three different families. The patients had signs of primary immunodeficiency and common skin phenotype of warts, molluscs, and dermatitis since early childhood.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fmgg3.237

Source: Molecular Genetics & Genomic Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Hanne S. Sorte, Liv T. Osnes, B ørre Fevang, Pål Aukrust, Hans C. Erichsen, Paul H. Backe, Tore G. Abrahamsen, Ole B. Kittang, Torstein Øverland, Shalini N. Jhangiani, Donna M. Muzny, Magnus D. Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H. C. A Tags: Original Article Source Type: research