Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family

Golikova P.I.; Petukhova D.A.; Sukhomyasova A.L.; Nikolaeva T.Ya.; Gurinova E.E.; Ivanova R.N.; Maksimova N.R.

doi:https://doi.org/10.17116/jnevro202112108171

Golikova P.I.

Ammosov North-Eastern Federal University

Petukhova D.A.

Ammosov North-Eastern Federal University

Sukhomyasova A.L.

Ammosov North-Eastern Federal University;
Republic Hospital No. 1 — National Center of Medicine

Nikolaeva T.Ya.

Ammosov North-Eastern Federal University

Gurinova E.E.

Republic Hospital No. 1 — National Center of Medicine

Ivanova R.N.

Ammosov North-Eastern Federal University;
Republic Hospital No. 1 — National Center of Medicine

Maksimova N.R.

Ammosov North-Eastern Federal University

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family

Authors:

Golikova P.I., Petukhova D.A., Sukhomyasova A.L., Nikolaeva T.Ya., Gurinova E.E., Ivanova R.N., Maksimova N.R.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(8): 71‑76

DOI: 10.17116/jnevro202112108171

Read: 3508 times

Download PDF (RU)

Contact the author

Table of contents

To cite this article:

Golikova PI, Petukhova DA, Sukhomyasova AL, Nikolaeva TYa, Gurinova EE, Ivanova RN, Maksimova NR. Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family. S.S. Korsakov Journal of Neurology and Psychiatry. 2021;121(8):71‑76. (In Russ.)
https://doi.org/10.17116/jnevro202112108171

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

Использование инфографики авторами научных работ

Close metadata

Abstract:

Neuronal ceroid lipofuscinosis type 6 (NCL 6) is a rare progressive neurodegenerative disease that belongs to the group of lysosomal storage diseases. A clinical and genetic description of NCL 6 in a Yakut family was carried out. The proband and her sibling showed characteristic clinical signs, including myoclonic epilepsy, ataxia, psychomotor regression, dementia, and visual impairment. The onset of the disease in the age range from 3—4 years. The disease is caused by the frameshift mutation c.396dupT (p.Val133CysfsTer18) in exon 4 of the CLN6 in a homozygous state, which was detected using targeted next generation sequencing. Diagnosis of NCL is difficult due to the pronounced genetic heterogeneity of the disease, as well as the similarity with other hereditary metabolic diseases in clinical manifestations. The method of DNA diagnostics of NCL type 6 using NGS and direct sequencing according to Sanger has been introduced into the practice of medical genetic counseling.

Keywords:

neuronal ceroid lipofuscinoses

CLN6

next-generation sequencing

Yakut family

Authors:

Golikova P.I.

Ammosov North-Eastern Federal University

Petukhova D.A.

Ammosov North-Eastern Federal University

Sukhomyasova A.L.

Ammosov North-Eastern Federal University;
Republic Hospital No. 1 — National Center of Medicine

Nikolaeva T.Ya.

Ammosov North-Eastern Federal University

Gurinova E.E.

Republic Hospital No. 1 — National Center of Medicine

Ivanova R.N.

Ammosov North-Eastern Federal University;
Republic Hospital No. 1 — National Center of Medicine

Maksimova N.R.

Ammosov North-Eastern Federal University

Received:

06.11.2020

Accepted:

22.12.2020

Close metadata

References:

Guerreiro R, Bras JT, Vieira M, Warrier V, Agrawal S, Stewart H, Anderson G, Mole SE. CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. Eur J Paediatr Neurol. 2013;17:657-660. https://doi.org/10.1016/j.ejpn.2013.04.011
Sheth J, Mistri M, Bhavsar R, Pancholi D, Kamate M, Gupta N, Kabra M, Metha S, Nampoothiri Sh, Thakker A, Jain V, Shah R and Sheth F. Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP 1 gene mutations in Indian patients. BMC Neurology. 2018;18(203):1-11. https://doi.org/10.1186/s12883-018-1206-1
Ren X-T, Wang X-H, Ding Ch-H, Shen X, Zhang H, Zhang W-H, Li J-W, Ren Ch-H. and Fang F. Next-Generation Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings with Late-Infantile Neuronal Ceroid Lipofuscinosis. Fronters in Genetics. 2019;10:1-10. https://doi.org/10.3389/fgene.2019.00370
Kozina AA, Okuneva EG, Baryshnikova NV, Kondakova OB, Nikolaeva EA, Fedoniuk ID, Mikhailova SV, Krasnenko AY, Stetsenko IF, Plotnikov NA, Klimchuk OI, Popov YV, Surkova EI, Shatalov PA, Rakitko AS, Ilinsky VV. Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers. Mol Genet and Genomic Med. 2020;8(7):1-11. https://doi.org/10.1053/mgg3.1228
Kollman K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke Th. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013;1832;1866-1881. https://doi.org/10.1126/scitranslmed.aac6191
Warrier V, Vieira M and Mole S. Genetic basis and phenotypic correlations of the neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2013;1832:1827-1830. https://doi.org/10.1016/j.bbadis.2013.03.017
Haltia M, Goebel HH. The neuronal ceroid-lipofuscinoses: A historical introduction. Biochimica et Biophysica Acta. 2013;1832:1795-1800. https://doi.org/10.1016/j.bbadis.2012.08.012
Canelli N, Garavaglia B, Simonati A, Aiello Ch, Barzaghi Ch, Pezzini F, Cilio MR, Biancheri R, Morbin M, Bernardina BD, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Biochemical and Biophysical Research Communications. 2009;379:892-897. https://doi.org/10.1016/j.bbrc.2008.12.159
Cárcel-Trullols J, Kovács AD, Pearce DA. Cell biology of the NCL proteins: What they do and don’t do. Biochimica et Biophysica Acta. 2015;1852:2242-2255. https://doi.org/10.1016/j.bbadis.2015.04.027
Mole S, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta Mol Basis Dis. 2015;1852:2237-2241. https://doi.org/10.1016/j.bbadis.2015.05.011
Sharp JD, Wheeler RB, Parker KA, Gardiner RM, Williams RE, Mole SE. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum Mutat. 2003;22:35-42. https://doi.org/10.1002/humu.10227
Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu, Matsumoto N, Haginoya K. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016;38:852-856. https://doi.org/10.1016/j.braindev.2016.04.007
Sun G, Yao F, Tian Z, Ma T, Yang Z. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report. BMC Med Genet. 2018;19:177. https://doi.org/10.1186/s12881-018-0690-x
Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Bashkin B, Frecker M, Carr SM, Ives E, Parfrey PS. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet. 2008;74:213-222. https://doi.org/10.1111/j.1399-0004.2008.01054.x
Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen A-K, A-E Lehesjoki. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. Clin Genet. 2005;68:167-173. https://doi.org/10.1111/j.1399-0004.2005.00471.x
Lavrov A, Ilyna E, Zakharova E, Boukina A, Tishkanina S. The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis. European Journal of Paediatric Neurology. 2002;6(3):161-164. https://doi.org/10.1053/ejpn.2002.0584
Ryzhkova OV, Kardymon OL, Prohorchuk EB, Konovalov FA, Maslennikov AB, Stepanov VA, Afanas’ev AA, Zaklyaz’minskaya EV, Rebrikov DV, Savost’yanov KV, Glotov AS, Kostareva AA, Pavlov AE, Golubenko MV, Polyakov AV, Kutsev SI. Manual for the Interpretation of Human DNA Sequence Data Obtained by Mass Papalella Sequencing (MPS) Methods (2018 revision, version 2). Meditsinskaya genetika. 2019;2:3-23. (In Russ.). https://doi.org/10.25557/2073-7998.2019.02.3-23
Mole S, Williams R, Goebel H, editors. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford: Oxford University Press; 2012. https://doi.org/10.1093/med/9780199590018.001.0001
Haines JL, Boustany, R-MN, Alroy J, Auger KJ, Shook KS, Terwedow H, Lerner TJ. Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis. Neurogenetics. 1998;1:217-222. https://doi.org/10.1007/s100480050032
Maksimova N, Hara K, Miyashia A, Nikolaeva I, Shiga A, Nogovicina A, Sukhomyasova A, Argunov V, Shvedova A, Ikeuchi T, Nishizawa, Kuwano R and Onodera O. Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. J Med Genet. 2007;44:772-778. https://doi.org/10.1136/jmg.2007.051979
Cain JT, Likhite S, White KA, Timm DJ, Davis SS, Johnson TB, Dennys-Rivers CN, Rinaldi F, Motti D, Corcoran S, Morales P, Pierson Ch, Hughes SM, Lee SY, Kaspar BK, Meyer K and Weimer JM. Gene therapy corrects brain and behavioral pathologies in CLN6-Batten Disease. Mol Ther. 2019;27:1836-1847. https://doi.org/10.1016/j.ymthe.2019.06.015