Table 1.

Mutations identified in C16orf57 in patients in the DCR and RTS patients

Family	Exon	Nucleotide	Protein
070	2	c.179 del C	Pro60Leu fsX54a
106	4	c.450-2 A>G	Splice site
107	5	c.531 del A	His179Met fsX86
215	5	c.531 del A	His179Met fsX86
224	2	c.258 T>A	Tyr86X
279	5	c.531 del A	His179Met fsX86
RTS 1	2	c.243 G>A	Trp81Xb
RTS 2	2	c.176,177 del GG	Gly59Ala fsX2
RTS 3	5	c.541 C>T	Gln181X

c., coding nucleotide number from the start of translation; p., protein change, fsX, frame-shift mutation with number of amino acids before stop (X) codon.

^aPreviously reported (21).

^bMutation previously described in a family with PN (22).