Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Table 2 ABHD5 gene mutations

Patients	DNA position	cDNA o DNA mutation	Protein mutation	GenBank accession number^a
A-II-1	IVS 1	c.47+1G>A	p.S17fsX1	HM474790
B-II-1	E 5	c.700C>T	p.R234X	/
C-II-2	IVS 6	c.960+5G>A	p.A321VfsX10	HM474791
C-II-1	IVS 6	c.960+5G>A	p.A321VfsX10	HM474791
D-II-2	E 6/IVS 6/E 7	*c.898_320del**	p.I300X	HM474793
E-II-I	E 6/IVS 6/E 7 IVS 4/E 5/IVS 5	*c.[898_320del]+ [662-1330_773+46del]**	p.[I300X]+ [G221VfsX9]	HM474793; HM474792
E-II-2	E 6/IVS 6/E 7 IVS 4/E 5/IVS 5	*c.[898_320del]+ [662-1330_773+46del]**	p.[I300X]+ [G221VfsX9]	HM474793; HM474792

cDNA numbering begins with +1 as the A of the translation initiation codon; the translation initiator methionine is numbered as +1; novel mutations are typed in bold; E, exon; IVS, intervening sequence; c, cDNA; g, gene.
^a GenBank accession number of the new mutations identified in this study

ISSN: 1750-1172