A novel <i>PCYT2</i> mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia

Qiao Wei; Wen-Jiao Luo; Hao Yu; Pei-Shan Wang; Hai-Lin Dong; Hong-Fu Li; Zhi-Ying Wu

doi:10.1016/j.jgg.2021.06.008

Volume 48 Issue 8

Aug. 2021

Turn off MathJax

Article Contents

Article Navigation > Journal of Genetics and Genomics > 2021 > 48(8): 751-754

PDF( 736 KB)

A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia

doi: 10.1016/j.jgg.2021.06.008

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Zhejiang University School of Medicine, Key Laboratory of Medical Neurobiology of Zhejiang Province, Hangzhou, Zhejiang 310009, China

Funds:

The authors sincerely thank the participants for their help and willingness to participate in this study. This study was supported by the research foundation for distinguished scholar of Zhejiang University to Zhi-Ying Wu (188020-193810101/089, Hangzhou) and Fundamental Research Funds for the Central Universities (2019XZZX001- 01-04).

Received Date: 2021-02-05
Publish Date: 2021-08-20

Abstract

FullText(HTML)

References(19)

References

Darios, F., Mochel, F., Stevanin, G., 2020. Lipids in the physiopathology of hereditary spastic paraplegias. Front. Neurosci. 14, 74.

de Souza, P.V.S., de Rezende Pinto, W.B.V., de Rezende Batistella, G.N., Bortholin, T., Oliveira, A.S.B., 2017. Hereditary spastic paraplegia: clinical and genetic hallmarks. Cerebellum 16, 525-551.

De Winter, J., Beijer, D., De Ridder, W., Synofzik, M., Zuchner, S.L., consortium, P., Van Damme, P., Spileers, W., Baets, J., 2020. PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway. Brain 3, 144.

Dong, E.L., Wang, C., Wu, S., Lu, Y.Q., Lin, X.H., Su, H.Z., Zhao, M., He, J., Ma, L.X., Wang, N., Chen, W.J., Lin, X., 2018. Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. Mol. Neurodegener. 13, 36.

Farazi Fard, M.A., Rebelo, A.P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintans, B., Ordonez-Ugalde, A., 2019. Truncating mutations in UBAP1 cause hereditary spastic paraplegia. Am. J. Hum. Genet. 104, 767-773.

Fink, J.K., 2006. Hereditary spastic paraplegia. Curr. Neurol. Neurosci. Rep. 6, 65-76.

Finsterer, J., Loscher, W., Quasthoff, S., Wanschitz, J., Auer-Grumbach, M., Stevanin, G., 2012. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J. Neurol. Sci. 318, 1-18.

Harding, A.E., 1983. Classification of the hereditary ataxias and paraplegias. Lancet 1, 1151-1155.

Horibata, Y., Elpeleg, O., Eran, A., Hirabayashi, Y., Savitzki, D., Tal, G., Mandel, H., Sugimoto, H., 2018. EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans. J. Lipid Res. 59, 1015-1026.

Husain, R.A., Grimmel, M., Wagner, M., Hennings, J.C., Marx, C., Feichtinger, R.G., Saadi, A., Rostasy, K., Radelfahr, F., Bevot, A., 2020. Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am. J. Hum. Genet. 107, 364-373.

Klebe, S., Stevanin, G., Depienne, C., 2015. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting. Rev. Neurol. (Paris) 171, 505-530.

McMaster, C.R., 2018. From yeast to humans - roles of the Kennedy pathway for phosphatidylcholine synthesis. FEBS Lett. 592, 1256-1272.

Parodi, L., Fenu, S., Barbier, M., Banneau, G., Duyckaerts, C., Tezenas du Montcel, S., Monin, M.L., Ait Said, S., Guegan, J., Tallaksen, C.M.E., 2018. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex. Brain 141, 3331-3342.

Pensato, V., Castellotti, B., Gellera, C., Pareyson, D., Ciano, C., Nanetti, L., Salsano, E., Piscosquito, G., Sarto, E., Eoli, M., 2014. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain 137, 1907-1920.

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet. Med. 17, 405-424.

Rickman, O.J., Baple, E.L., Crosby, A.H., 2020. Lipid metabolic pathways converge in motor neuron degenerative diseases. Brain 143, 1073-1087.

Vance, J.E., Tasseva, G., 2013. Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells. Biochim. Biophys. Acta 1831, 543-554.

Vaz, F.M., McDermott, J.H., Alders, M., Wortmann, S.B., Kolker, S., Pras-Raves, M.L., Vervaart, M.A.T., van Lenthe, H., Luyf, A.C.M., Elfrink, H.L., 2019. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 142, 3382-3397.

Velez-Santamaria, V., Verdura, E., Macmurdo, C., Planas-Serra, L., Schluter, A., Casas, J., Martinez, J.J., Casasnovas, C., Si, Y., Thompson, S.S., Maroofian, R., Pujol, A., 2020. Expanding the clinical and genetic spectrum of PCYT2-related disorders. Brain 143, e76.

Relative Articles

Supplements(0)

Cited By

Proportional views