[1] Daily DK,Ardinger HH,Holmes GE.Identification and evaluation of mental retardation[J].Am Fam Physician,2000,61(4):1059-1067,1070.
[2] Hosseini M,Fattahi Z,Abedini SS,et al.A novel candidate gene implicated in autosomal recessive intellectual disability[J].Am J Med Genet,2019,179(1):13-19.
[3] Vickers RR,Gibson JS.A review of the genomic analysis of children presenting with developmental delay/intellectual disability and associated dysmorphic features[J].Cureus,2019,11(1):E3873.
[4] Nambot S,Thevenon J,Kuentz P,et al.Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability:Substantial interest of prospective annual reanalysis[J].Genet Med,2018,20(6):645-654.
[5] Ouyang Q,Nakayama T,Baytas O,et al. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features[J].Proc Natl Acad Sci USA,2016,113(38):E5598-E5607.
[6] Baytas O,Davidson SM,DeBerardinis RJ,et al.Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo[J].Hum Mol Genet,2021,31(4):587-603.
[7] Celis K,Shuldiner S,Haverfield EV,et al.Loss of function mutation in glutamic pyruvate transaminase 2(GPT2)causes developmental encephalopathy[J].J Inherit Metab Dis,2015,38(5):941-948.
[8] Lobo-Prada T,Sticht H,Bogantes-Ledezma S,et al.A homozygous mutation in GPT2 associated with nonsyndromic intellectual disability in a consanguineous family from costa rica[J].JIMD Rep,2017,36:59-66.
[9] Kaymakcalan H,Yarman Y,Goc N,et al. Novel compound heterozygous mutations in GPT2 linked to microcephaly,and intellectual developmental disability with or without spastic paraplegia[J].Am J Med Genet A,2018,176(2):421-425.
[10] Hengel H,Keimer R,Deigendesch W,et al. GPT2 mutations cause developmental encephalopathy with micro-cephaly and features of complicated hereditary spastic paraplegia[J].Clin Genet,2018,94(3-4):356-361.
[11] Ouyang Q,Kavanaugh BC,Joesch-Cohen L,et al. GPT2 mutations in autosomal recessive developmental disability:extending the clinical phenotype and population prevalence estimates[J].Hum Genet,2019,138(10):1183-1200.
[12] Binaafar S,Razmara E,Mahdieh N,et al.A novel missense variantin GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family[J].Eur J Med Genet,2020,63(5):103853.
[13] Yang RZ,Blaileanu G,Hansen BC,et al. cDNA cloning,genomic structure,chromosomal mapping,and functional expression of a novel human alanine aminotransferase[J].Genomics,2002,79(3):445-450.
[14] 高佳欣.GPT2促进乳腺癌细胞转移机制的研究[D].大连:大连医科大学,2019.
[15] Peng LA,Schousboe A,Hertz L.Utilization of α-ketoglutarate as a pre-cursor for transmitter glutamate in cultured cerebellar granule cells[J].Neurochem Res,1991,16(1):29-34.