{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T18:07:58Z","timestamp":1781287678727,"version":"3.54.1"},"reference-count":44,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T00:00:00Z","timestamp":1589500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"State Academies of Sciences"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizures, psychomotor decline, and loss of vision.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe the clinical and molecular characteristics of four Russian patients with NCL (one female and three males, with ages ranging from 4 to 5\u00a0years). The clinical features of these patients include cognitive and motor deterioration, seizures, stereotypies, and magnetic resonance imaging signs of brain atrophy. Exome sequencing was performed to identify the genetic variants of patients with NCL. Additionally, we tested 6,396 healthy Russians for NCL alleles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified five distinct mutations in four NCL\u2010associated genes of which two mutations are novel. These include a novel homozygous frameshift mutation in the <jats:italic>CLN6<\/jats:italic> gene, a compound heterozygous missense mutation in the <jats:italic>KCTD7<\/jats:italic> gene, and previously known mutations in <jats:italic>KCTD7<\/jats:italic>, <jats:italic>TPP1<\/jats:italic>, and <jats:italic>MFSD8<\/jats:italic> genes. Furthermore, we estimated the Russian population carrier frequency of pathogenic and likely pathogenic variants in 13 genes associated with different types of NCL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expands the spectrum of mutations in lipofuscinosis. This is the first study to describe the molecular basis of NCLs in Russia and has profound and numerous clinical implications for diagnosis, genetic counseling, genotype\u2013phenotype correlations, and prognosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1228","type":"journal-article","created":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T04:28:04Z","timestamp":1589603284000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers"],"prefix":"10.1002","volume":"8","author":[{"given":"Anastasiya A.","family":"Kozina","sequence":"first","affiliation":[{"name":"Institute of Biomedical Chemistry Moscow Russia"},{"name":"Pirogov Russian National Research Medical University Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena G.","family":"Okuneva","sequence":"additional","affiliation":[{"name":"Genotek Ltd. 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