A Novel Mutation in TMPRSS۱۵ Gene Causes a Severe Form of Congenital Enterokinase Deficiency

Congenital enterokinase deficiency is a rare autosomal recessive disorder of gastrointestinal tract in newborns. Enterokinase initiatesdigestion of protein by conversion of trypsinogen into trypsin. We analyzed the parents of unaffected deceased newbornwith congenital enterokinase deficiency by exome sequencing. The results of exome sequencing identified a novel heterozygousframeshift deletion, c.۱۵۱-۱۵۵del p.Ala۵۱Trpfs*۵, in TMPRSS۱۵ gene. Direct sequencing confirmed that the couple had heterozygousstatus. TMPRSS۱۵ gene mutations are completely rare. To date, one small deletion and three nonsense mutations are reported in thisgene in Human Gene Mutation Database (HGMD®). The identified mutation leads to complete absence of enzymatic activity.

کلیدواژه ها:

Congenital Enterokinase Deficiency ، TMPRSS۱۵ ، Frameshift Mutation