Gene Symbol CLN4/DNAJC5 CSPα
Gene ID 80331
Chromosomal Location 20q13.33
Genomic RefSeqGene NG_029805.1 47930 bp
Transcript RefSeq NM_025219.2 5307 bp
Protein RefSeq NP_079495.1 198 aa
No. patients 7
No. families 7
Additional notes
DB Patient ID Other Patient ID Allele 1 nt (aa) Allele 2 nt (aa) Changes in the same gene Changes in other genes Phenotype Age of onset Histology Country of origin Country of residence Reference PMID Notes Notes2
cln4.001 P1 p.Leu116del n.a (dominant) ANCL (AD) GROD Czech Republic Noskova et al 2011 Am J Hum Genet 12:241-52,  21820099 Other affecteds in same family tested positive.
cln4.002 N1 p.Leu115Arg n.a (dominant) ANCL (AD) GROD, CL, FP The Netherlands Noskova et al 2011 Am J Hum Genet 12:241-52 21820099 Previously published Njissen et al 2002, 2003, 2009
cln4.003 UCL563_Noskova_2012, Josephson_2001, 1_Benitez_2012 p.Leu115Arg n.a (dominant) ANCL (AD) USA Noskova et al 2011 Am J Hum Genet 12:241-52, Benitez et al 2011 PLoS One 6:e2674 21820099 Previously published Josephson et al 2001 11489285
cln4.004 UCL328 p.Leu115Arg n.a (dominant) Kufs 34 GROD USA, French Canadian Noskova et al 2011 Am J Hum Genet 12:241-52 21820099
cln4.005 UCL519_Noskova_2012, 2_Benitez_2012 p.Leu116del n.a (dominant) Kufs 30s USA Noskova et al 2011 Am J Hum Genet 12:241-52, Benitez et al 2011 PLoS One 6:e2674 21820099 later found to be part of extended Kufs family, presume orginal Parry family? 22073189
cln4.006 UCL562_Noskova_2012, 1_Cossette_2-12, BD319_Velinove_2012 p.Leu115Arg n.a (dominant) Kufs GROD, FP USA Noskova et al 2011 Am J Hum Genet 12:241-52 21820099 Previously published Burneo et al 2003,Sims et al  NEJM 2011 364:1062-74,  In Noskova et al reported as unaffected due to sample mix up
cln4.007 P-VI-2_Velinov_2012 p.Leu116del n.a (dominant) pPRPF6: p.Asn477Ser Kufs 20s GROD USA Velinov et al 2012 22235333 Originally reported Parry family by Boehme 1971 5132971
Notes
C - around birth, I - infantile (6-18 mo), LI - late infantile (2-4 yr), vLI - variant late infantile, J - juvenile (5-10 yr), A - Adult 
GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
One patient per family studied currently shown in above table