For a definite diagnosis, a whole exome sequencing was performed and detected a known, disease causing homozygous mutation in SPINK5
gene [IVS2+5G>T (c.81+5G>T)].
The diagnosis can be confirmed, if necessary, by identification of a germline SPINK5
mutation by DNA sequencing .
Thus, ZNF750 knockdown downregulates the expression of epidermal barrier-related proteins including FLG, loricrin, and SPINK5
Defects of the LEKTI-encoding gene ( SPINK5
) result in the lack of LEKTI and lead to Netherton syndrome which mimics AD.[sup] Only a proportion of AD is susceptible to Spink5
polymorphisms,[sup],,, which suggest that other factors may influence LEKTI expression in AD.
Asthma is believed to have a strong genetic background, and hundreds of genes have been identified to be related with asthma, including GSTM1, IL10, CTLA-4, SPINK5
, LTC4S, IL4R, and ADAM33 .
Previous research has shown the role of gene (http://www.medicalnewstoday.com/articles/261029.php) ORMDL3 , (http://acc6.its.brooklyn.cuny.edu/~scintech/asthma/Genetics2.htm) ADAM33, (http://www.who.int/genomics/about/Asthma.pdf) PHF11, DPP10, GRPA and SPINK5
In Netherton syndrome, mutations occur in SPINK5
, a serine protease inhibitor that encodes a critical serine protease inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI).