In human, SDS is an autosomal recessive disorder and mostly associated with two predominant mutations, 183-184TA to CT that results in an in-frame stop codon (K62X) and 258 + 2T to C that produces premature truncation (84Cfs3) (Boocock et al., 2003), both of which would render truncated forms of SBDS lack of C-terminal domains. Here, SBDS is linked to Shwachman-Diamond syndrome.