Novel SERAC1 mutations in a Chinese patient presenting with parkinsonism and dystonia

Author:

Ma Jun,Wang LinORCID,Yang Ying-Mai,Mao Chen-Hui,Wan Xin-Hua

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Reference5 articles.

1. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E (2006) Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab 88(1):47–52. https://doi.org/10.1016/j.ymgme.2006.01.013

2. Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grunewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP (2012) Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44(7):797–802. https://doi.org/10.1038/ng.2325

3. Wortmann SB, de Brouwer APM, Wevers RA, Morava E (1993) MEGDEL syndrome. In: Pagon RA, Adam MP, Ardinger HH et al (eds) GeneReviews(R). University of Washington, Seattle University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved., Seattle (WA)

4. Wortmann SB, van Hasselt PM, Baric I, Burlina A, Darin N, Horster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA (2015) Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics 46(2):98–103. https://doi.org/10.1055/s-0034-1399755

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA (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(5):405–424. https://doi.org/10.1038/gim.2015.30

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