Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

Table 1 The NCL phenotypes/subtypes in patients carrying CLN8 null variants

DB Patient ID^a	Allele 1 nt (aa)	Allele 2 nt (aa)	Phenotype	Age at onset	Histology	Origin/Residence	Reference
Pa-CLN8.033	c.88delG (p.Ala30fsX20)	c.88delG (p.Ala30fsX20)	vLI-NCL	3y	CL/FP	Turkey	Ranta et al., 2004 [21]
Pa-CLN8.035	c.66delG (p.Gly22SerfsX5)	c.581A > G (p.Gln194Arg)	vLI-NCL	4y	CL/FP	Italy	Cannelli et al., 2006 [22]
Pa-CLN8.036	c.66delG (p.Gly22SerfsX5)	c.473A > G (p.Tyr158Cys)	vLI-NCL	3.5y	CL/FP	Italy	Cannelli et al., 2006 [22]
Pa-CLN8.043	c.544-2566_590del2613 (p.Ala182AspfsX49)	c.544-2566_590del2613 (p.Ala182AspfsX49)	vLI-NCL	2.5y	CL/FP	Turkey	Reinhardt et al., 2010 [17]
Pa-CLN8.068	c.562_563delCT (p.Leu188ValfsX58)	8p23.3 terminal deletion	vLI-NCL	4y	FP (lymphocytes), CL, RL (skin)	Ireland	Allen et al. 2012 [24]
Pa-CLN8.073	c.763C > T	8p23.3 deletion, 235 Kb	vLI-NCL	NA	NA	UK	R. Williams pers. comm
Pa-CLN8.074	c.728 T > C	8p23.3 deletion, 54 Kb	vLI-NCL	NA	NA	UK	R. Williams pers. comm
This study	c.298 C > T (p.Gln100Ter)	c.551 G > A(p.Trp184Ter)	vLI-NCL	4y	NA	Chinese

NCL patients carrying CLN8 bi-allelic or uni-allelic null variant was included. CLN8: NM_018941.3. Null variant includes frameshift, splicing or non-sense mutation
LI late infantile (2–4 y), vLI varaint late infantile (3–7.5 y), NA not available, CL curvilinear, RL rectilinear, FP fingerprint
^a: the ID in the NCL Mutation Database (http://www.ucl.ac.uk/ncl/)

ISSN: 1471-2350