Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (9): 1038-1040.DOI: 10.11852/zgetbjzz2021-0399
• Case Report • Previous Articles
Received:
2021-03-22
Revised:
2021-05-27
Online:
2021-09-10
Published:
2021-09-07
谢巧玲
作者简介:
谢巧玲(1987-),广东人,主治医师,研究生学历,主要研究方向为小儿神经康复。
CLC Number:
谢巧玲. MSTO1基因新变异所致精神运动发育迟缓患儿的基因分析[J]. 中国儿童保健杂志, 2021, 29(9): 1038-1040.
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[1] Nasca A,Scotton C,Zaharieva I,et al.Recessive mutations in MSTO1 cause mitochondrial dynamics impairment,leading to myopathy and ataxia [J].Hum Mutat,2017,38(8):970-977. [2] Gal A,Balicza P,Weaver D,et al.MSTO1 is a cytoplasmic pro-mitochondrial fusion protein,whose mutation induces myopathy and ataxia in humans [J].EMBO Mol Med,2017,9(7):967-984. [3] Miklos GL,Yamamoto M,Burns RG,et al.An essential cell division gene of Drosophila,absent from Saccharomyces,encodes an unusual protein with tubulin-like and myosin-like peptide motifs[J].Proc Natl Acad Sci USA,1997,94(10):5189-5194. [4] Kimura M,Okano Y.Human Misato regulates mitochondrial distribution and morphology [J].Exp Cell Res,2007,313(7):1393-1404. [5] Ardicli D,Sarkozy A,Zaharieva I,et al.A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement [J].Neuromuscul Disord,2019,29(6):448-455. [6] Li K,Jin R,Wu X.Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy [J].Eur J Med Genet,2020,63(1):103623. [7] Donkervoort S,Sabouny R,Yun P,et al.MSTO1 mutations cause mtDNA depletion,manifesting as muscular dystrophy with cerebellar involvement [J].Acta Neuropathol,2019,138(6):1013-1031. [8] Schultz-Rogers L,Ferrer A,Dsouza NR,et al.Novel biallelic variants in MSTO1 associated with mitochondrial myopathy [J].Cold Spring Harb Mol Case Stud,2019,5(6):a004309. [9] Basuta K,Schneider A,Gane L,et al.High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome [J].Am J Med Genet A,2015,167A(9):2154-2161. [10] Nolin SL,Glicksman A,Ding X,et al.Fragile X analysis of 1112 prenatal samples from 1991 to 2010 [J].Prenat Diagn,2011,31(10):925-931. [11] Farzin F,Perry H,Hessl D,et al.Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation [J].J Dev Behav Pediatr,2006,27(2):137-144. [12] Hagerman RJ,Berry-Kravis E,Kaufmann WE,et al.Advances in the treatment of fragile X syndrome [J].Pediatrics,2009,123(1):378-390. |
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