A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity

Abida O, Elloumi N, Bahloul E et al (2022) Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus. Mol Genet Genomic Med 10:e2080. https://doi.org/10.1002/mgg3.2080

Article  CAS  PubMed  PubMed Central  Google Scholar 

Aebi H (1984) Catalase in vitro. Methods Enzymol 105:121–126. https://doi.org/10.1016/s0076-6879(84)05016-3

Article  CAS  PubMed  Google Scholar 

Alila-Fersi O, Aloulou H, Werteni I et al (2020) Mutations in GAA gene in Tunisian families with infantile onset Pompe disease: novel mutation and structural modeling investigations. J Mol Neurosci 70:1100–1109. https://doi.org/10.1007/s12031-020-01516-9

Article  CAS  PubMed  Google Scholar 

Allen RC, Zoghbi HY, Moseley AB et al (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229–1239

CAS  PubMed  PubMed Central  Google Scholar 

Bathina S, Das UN (2015) Brain-derived neurotrophic factor and its clinical implications. Arch Med Sci 11:1164–1178. https://doi.org/10.5114/aoms.2015.56342

Article  CAS  PubMed  PubMed Central  Google Scholar 

Battle DE (2013) Diagnostic and Statistical Manual of Mental Disorders (DSM). Codas 25:191–192. https://doi.org/10.1590/s2317-17822013000200017

Article  PubMed  Google Scholar 

Beyer WF, Fridovich I (1987) Assaying for superoxide dismutase activity: some large consequences of minor changes in conditions. Anal Biochem 161:559–566. https://doi.org/10.1016/0003-2697(87)90489-1

Article  CAS  PubMed  Google Scholar 

Boiarska Z, Passarella D (2021) Microtubule-targeting agents and neurodegeneration. Drug Discov Today 26:604–615. https://doi.org/10.1016/j.drudis.2020.11.033

Article  CAS  PubMed  Google Scholar 

Bonini SA, Mastinu A, Ferrari-Toninelli G, Memo M (2017) Potential role of microtubule stabilizing agents in neurodevelopmental disorders. Int J Mol Sci 18:1627. https://doi.org/10.3390/ijms18081627

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boscutti A, Pigoni A, Delvecchio G et al (2022) The influence of 5-HTTLPR, BDNF Rs6265 and COMT Rs4680 polymorphisms on impulsivity in bipolar disorder: the role of gender. Genes (basel) 13:482. https://doi.org/10.3390/genes13030482

Article  CAS  PubMed  Google Scholar 

Brand BA, Blesson AE, Smith-Hicks CL (2021) The impact of X-chromosome inactivation on phenotypic expression of X-linked neurodevelopmental disorders. Brain Sci 11:904. https://doi.org/10.3390/brainsci11070904

Article  CAS  PubMed  PubMed Central  Google Scholar 

Buege JA, Aust SD (1978) Microsomal lipid peroxidation. Methods Enzymol 52:302–310. https://doi.org/10.1016/s0076-6879(78)52032-6

Article  CAS  PubMed  Google Scholar 

Burke SL, Cobb J, Agarwal R et al (2021) How robust is the evidence for a role of oxidative stress in autism spectrum disorders and intellectual disabilities? J Autism Dev Disord 51:1428–1445. https://doi.org/10.1007/s10803-020-04611-3

Article  PubMed  Google Scholar 

Chauhan A, Chauhan V, Brown WT, Cohen I (2004) Oxidative stress in autism: increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin–the antioxidant proteins. Life Sci 75:2539–2549. https://doi.org/10.1016/j.lfs.2004.04.038

Article  CAS  PubMed  Google Scholar 

Chiurazzi P, Kiani AK, Miertus J et al (2020) Genetic analysis of intellectual disability and autism. Acta Biomed 91:e2020003. https://doi.org/10.23750/abm.v91i13-S.10684

Chouchen J, Mahfood M, Alobathani M et al (2021) Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations. Int J Pediatr Otorhinolaryngol 140:110467. https://doi.org/10.1016/j.ijporl.2020.110467

Article  PubMed  Google Scholar 

de Assis GG, Hoffman JR (2022) The BDNF Val66Met Polymorphism is a relevant, but not determinant, risk factor in the etiology of neuropsychiatric disorders – current advances in human studies: a systematic review. Brain Plast 8:133. https://doi.org/10.3233/BPL-210132

Article  PubMed  PubMed Central  Google Scholar 

Elhadidy ME, Kilany A, Gebril OH et al (2023) BDNF Val66Met polymorphism: suggested genetic involvement in some children with learning disorder. J Mol Neurosci 73:39–46. https://doi.org/10.1007/s12031-022-02095-7

Article  CAS  PubMed  Google Scholar 

Elhawary NA, Tayeb MT, Sindi IA et al (2019) Genetic biomarkers predict susceptibility to autism spectrum disorder through interactive models of inheritance in a Saudi community. Cogent Biol 5:1606555. https://doi.org/10.1080/23312025.2019.1606555

Article  CAS  Google Scholar 

Fatma R, Chauhan W, Shahi MH, Afzal M (2022) Association of BDNF gene missense polymorphism rs6265 (Val66Met) with three quantitative traits, namely, intelligence quotient, body mass index, and blood pressure: a genetic association analysis from North India. Front Neurol 13:1035885. https://doi.org/10.3389/fneur.2022.1035885

Article  PubMed  Google Scholar 

Flohé L, Günzler WA (1984) Assays of glutathione peroxidase. Methods Enzymol 105:114–121. https://doi.org/10.1016/s0076-6879(84)05015-1

Article  PubMed  Google Scholar 

Foreman J, Brent S, Perrett D et al (2022) DECIPHER: supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research. Hum Mutat 43:682–697. https://doi.org/10.1002/humu.24340

Article  PubMed  PubMed Central  Google Scholar 

Frielingsdorf H, Bath KG, Soliman F et al (2010) Variant brain-derived neurotrophic factor Val66Met endophenotypes: implications for posttraumatic stress disorder. Ann N Y Acad Sci 1208:150–157. https://doi.org/10.1111/j.1749-6632.2010.05722.x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gebril OH, Meguid NA (2011) HFE gene polymorphisms and the risk for autism in Egyptian children and impact on the effect of oxidative stress. Dis Markers 31:289–294. https://doi.org/10.3233/DMA-2011-0830

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gieldon L, Mackenroth L, Betcheva-Krajcir E et al (2017) Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. Am J Med Genet A 173:2545–2550. https://doi.org/10.1002/ajmg.a.38348

Article  CAS  PubMed  Google Scholar 

Giovenino C, Trajkova S, Pavinato L et al (2023) Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation for X-linked genes. Eur J Hum Genet. https://doi.org/10.1038/s41431-023-01324-w

Article  PubMed  Google Scholar 

Guindalini C, Mazzotti DR, Castro LS et al (2014) Brain-derived neurotrophic factor gene polymorphism predicts interindividual variation in the sleep electroencephalogram. J Neurosci Res 92:1018–1023. https://doi.org/10.1002/jnr.23380

Article  CAS  PubMed  Google Scholar 

Hodges H, Fealko C, Soares N (2020) Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Transl Pediatr 9:S55–S65. https://doi.org/10.21037/tp.2019.09.09

Hooikaas PJ, Martin M, Mühlethaler T et al (2019) MAP7 family proteins regulate kinesin-1 recruitment and activation. J Cell Biol 218:1298–1318. https://doi.org/10.1083/jcb.201808065

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hu H, Haas SA, Chelly J et al (2016) X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry 21:133–148. https://doi.org/10.1038/mp.2014.193

Article  CAS  PubMed  Google Scholar 

Hu J, Ng PC (2012) Predicting the effects of frameshifting indels. Genome Biol 13:R9. https://doi.org/10.1186/gb-2012-13-2-r9

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jaworski J, Kapitein LC, Gouveia SM et al (2009) Dynamic microtubules regulate dendritic spine morphology and synaptic plasticity. Neuron 61:85–100. https://doi.org/10.1016/j.neuron.2008.11.013

Article  CAS  PubMed  Google Scholar 

Jollow DJ, Mitchell JR, Zampaglione N, Gillette JR (2008) Bromobenzene-induced liver necrosis. protective role of glutathione and evidence for 3,4-bromobenzene oxide as the hepatotoxic metabolite. Pharmacology 11:151–169. https://doi.org/10.1159/000136485

Article  Google Scholar 

Kelliher MT, Saunders HA, Wildonger J (2019) Microtubule control of functional architecture in neurons. Curr Opin Neurobiol 57:39–45. https://doi.org/10.1016/j.conb.2019.01.003

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khoury E, Yazbek J-C, Zarzour M et al (2018) Microduplication on the microtubule-associated protein 7 domain-containing 3 (MAP7D3) gene in a female patient with borderline personality disorder, major depression and a history of oppositional defiant disorder. L’Encéphale 45. https://doi.org/10.1016/j.encep.2017.11.005

Lasser M, Tiber J, Lowery LA (2018) The role of the microtubule cytoskeleton in neurodevelopmental disorders. Front Cell Neurosci 12:165. https://doi.org/10.3389/fncel.2018.00165

Article  CAS  PubMed  PubMed Central 

留言 (0)

沒有登入
gif