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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

I. Jedličková, M. Cadieux-Dion, A. Přistoupilová, V. Stránecký, H. Hartmannová, K. Hodaňová, V. Barešová, H. Hůlková, J. Sikora, L. Nosková, D. Mušálková, P. Vyleťal, J. Sovová, P. Cossette, E. Andermann, F. Andermann, S. Kmoch, Adult NCL Gene...

. 2020 ; 28 (6) : 783-789. [pub] 20200109

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21020484
E-zdroje Online Plný text

NLK Free Medical Journals od 2009
PubMed Central od 2009 do Před 1 rokem
Europe PubMed Central od 2009 do Před 1 rokem
ProQuest Central od 2000-01-01 do Před 1 rokem
Open Access Digital Library od 1998-01-01
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem

Odkazy

PubMed 31919451
DOI 10.1038/s41431-019-0567-2
Knihovny.cz E-zdroje

Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characterized by intralysosomal accumulation of ceroid in tissues. The ceroid accumulation primarily affects the brain, leading to neuronal loss and progressive neurodegeneration. Although several causative genes have been identified (DNAJC5, CLN6, CTSF, GRN, CLN1, CLN5, ATP13A2), the genetic underpinnings of ANCL in some families remain unknown. Here we report one family with autosomal dominant (AD) Kufs disease caused by a 30 bp in-frame duplication in DNAJC5, encoding the cysteine-string protein alpha (CSPα). This variant leads to a duplication of the central core motif of the cysteine-string domain of CSPα and affects palmitoylation-dependent CSPα sorting in cultured neuronal cells similarly to two previously described CSPα variants, p.(Leu115Arg) and p.(Leu116del). Interestingly, the duplication was not detected initially by standard Sanger sequencing due to a preferential PCR amplification of the shorter wild-type allele and allelic dropout of the mutated DNAJC5 allele. It was also missed by subsequent whole-exome sequencing (WES). Its identification was facilitated by reanalysis of original WES data and modification of the PCR and Sanger sequencing protocols. Independently occurring variants in the genomic sequence of DNAJC5 encoding the cysteine-string domain of CSPα suggest that this region may be more prone to DNA replication errors and that insertions or duplications within this domain should be considered in unsolved ANCL cases.

Citace poskytuje Crossref.org

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