Abstract
A tale of two sisters: identical IL36RN mutations and discordant phenotypes.
Highlights
Only carry a mutation in a single allele.[3]
Consanguineous Tunisian families were central to the discovery of homozygous mutations in IL36RN being associated with early onset generalized pustular psoriasis (GPP).[2]
The genetic differences in autozygosity seen in consanguineous families are currently being delineated at a population level, and support the exploration and comparison of phenotypes seen in this genetic background with other non-consanguineous genetic backgrounds.[4]
Summary
Only carry a mutation in a single allele.[3]. Sibling pairs with compound heterozygote mutations in European and Asian populations, an intriguing, non-consanguineous, genetic background to study phenotypes associated with IL36RN, are rare. 3. Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan. *Corresponding author: Neil Rajan, Institute of Human Genetics, University of Newcastle upon Tyne, NE1 3BZ, UK.
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