SEPN1Selenoprotein N, 1
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"Rigid spine" muskuler distrofi SEPN1 genindeki mutasyonlar sonucu ortaya cikan otozomal cekinik gecisli bir KMD'dir (28).
Further study assigned the locus for rigid spine muscular dystrophy 1 (RSMD1) to chromosome 1p35-36 and found evidence of linkage disequilibrium associated with the SEPN1 gene.[39] SEPN1 gene encodes a selenoprotein N which is a glycoprotein localized within the endoplasmic reticulum.[40] Selenoprotein N may play a key role in the physiology of skeletal muscles such as the diaphragm by maintaining the redox homeostasis and protection against oxidative stress.[41]
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .