NCL resource

CLN8

No. of disease causing mutations: 16
No. of polymorphisms: 2

Identifier	Nucleotide change	Mutation	Amino acid change/ Predicted consequence	Location	Restriction site change	Phenotype	No of families with mutation	Country/ies of origin	Reference
cln8.005	c.46C>A;c.509C>T	Missense	p.Leu16Met;p.Thr170Met	Exon 2/ Exon 3	ScrFI; -	vLINCL	1	Turkey	Ranta et al. 2004 Hum Mutat 23:300-305
cln8.008	c.66delG	1-bp deletion	p.Gly22fs Frameshift	Exon 2		vLINCL	2	Italy	Cannelli et al. 2006. Neurogenetics 7:111-7.
cln8.001	c.70C>G	Missense	p.Arg24Gly	Exon 2		Progressive epilepsy with mental retardation/Northern epilepsy	10	Finland	Ranta et al. 1999 Nature Genetics 23:233-236
cln8.004	c.88delG	1 bp deletion	Frameshift after V29 and truncated protein p.Val29fs	Exon 2	ScrFI	vLINCL	1	Turkey	Ranta et al. 2004 Hum Mutat 23:300-305
cln8.009	c.88G>C	Missense	p.Ala30Pro	Exon 2	AvaII (gain)	vLINCL	1	Italy	Cannelli et al. 2006. Neurogenetics 7:111-7.
cln8.015	c.180_182delGAA	3-bp deletion	p.Lys61del	Exon 2		vLINCL	1	Italy	Vantaggiato et al. 2009. Hum Mutat 7:1104-16
cln8.003	c.464T>C	polymorphism	p.Val155Ala	Exon 2		-			Ranta et al. 1999 Nature Genetics 23:233-236
cln8.014	c.470A>G	Missense	p.His157Arg	Exon 2		vLINCL	1	Turkey	Kousi et al 2009. Brain. 132:810-810
cln8.010	c.473A>G	Missense	p.Tyr158Cys	Exon 2	Alw26 I (gain)	vLINCL	3	Italy, Turkey, Pakistan	Cannelli et al. 2006. Neurogenetics 7:111-7. Kousi et al 2009. Brain. 132:810-810 Lehesjoki pers comm
cln8.002	c.507T>C	polymorphism	silent	Exon 2		-			Ranta et al. 1999 Nature Genetics 23:233-236
cln8.016	c.544-2566_590del2613	2613-bp deletion	probably mRNA instability since no transcripts detected or a truncated protein (p.Ala182AspfsX49)	Intron 2/Exon 3		vLINCL, rapid progression	1	Turkey	Reinardt et al 2010 Clin Genet 77:79-85
cln8.011	c.581A>G	Missense	p.Gln194Arg	Exon 3	Msp I (gain)	vLINCL	1	Italy	Cannelli et al. 2006. Neurogenetics 7:111-7.
cln8.006	c.610C>T	Missense	p.Arg204Cys	Exon 3	-	vLINCL	4	Turkey (3), Pakistan	Ranta et al. 2004 Hum Mutat 23:300-305; S. Ball pers comm
cln8.017	c.611G>T	Missense	p.Arg204Leu	Exon 3			1	Germany	Reinardt et al 2010 Clin Genet 77:79-85
cln8.018									pers comm
cln8.012	c.709G>A	Missense	p.Gly237Arg	Exon 3		Finnish patient: In association with c.70C>G = EPMR or even milder vLINCL	3	Finland, Pakistan, ?	Siintola pers comm Kousi et al 2009. Brain. 132:810-810 Reinardt et al 2010 Clin Genet 77:79-85
cln8.013	c.763C>G	Missense	p.Gln256Glu	Exon 3		vLINCL	1	Israel	Zelnik et al. 2007 Pediatr Neurol 36: 411-413
cln8.007	c.789G>C	Missense	p.Trp263Cys	Exon 3	-	vLINCL, protracted (later age of onset and protracted)	3	Turkey	Ranta et al. 2004 Hum Mutat 23:300-305 Mole et al 2005 Neurogenetics 6:107-26

Nomenclature follows the guidelines for mutation nomenclature where possible (http://www.hgvs.org/rec.html). Numbering in original publication shown in (brackets).

ESTs AI246377, AA807426, AA368223, AA515629, AA765593: Ranta et al. 1999 Nature Genetics 23:233-236

Genomic sequence contained within BAC 186J15 AF123757, AF123758, AFM123759, AF123760, AF123761: Ranta et al. 1999 Nature Genetics 23:233-236

back

NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE

CLN8