Determinant genes that effect the central nervous system and their antenatal identification
Keywords:Antenatal, CNS, Consanguineous, Genes, Heterozygous, Tubulinopathies
Background: The central nervous system is an intricate networking of electric signals that intertwines the functioning of all senses of speech, thoughts etc. A genetic mutation in this complex structure is known to cause many neurological diseases.
Methods: Records of the genetic analysis reports of patients were studied. Patients with CNS genetic syndromes or tubulinopathies in fetus of the present pregnancy or previous pregnancy who presented themselves only for genetic counseling with the genetic analysis report done at an outside diagnostic center were selected.
Results: Ten patients presented with history congenital abnormalities of the structure of the central nervous system in pregnancy. Non-invasive investigations in the first child led to the need for genetic analysis of the present foetus. EEG showing independent S2 foci and left central parietal and right temporal region with bilateral synchronous discharge was noticed. MRI findings such as chronic infarct with encephalomalacia were seen.
Conclusions: Our study identified genes responsible for CNS abnormalities in structure and function and the Exom sequence in which they occurred. We were able to observe various types of clinical presentations of the syndromes on MRI/USG.
Achim CL, Everall IP. Effects of aging on HIV-associated brain disease. HIV and Aging. 2008;27:23.
Imai KS, Stolfi A, Levine M, Satou Y. Gene regulatory networks underlying the compartmentalization of the Ciona central nervous system. Development. 2009;136(2):285-93.
Gonçalves FG, Tomás de Andrade LF, Taranath A, Lakshmanan R, Goetti R, Feltrin FS, Mankad K, Teixeira SR, Hanagandi PB, Arrigoni F. Tubulinopathies. Topics in magnetic resonance imaging. 2018;27(6):395-408.
Buisson B, Cavallin M. Tubulinopathies overview. Gene Reviews. 2016;7:88-94.
Sierra H, Cordova M, Chen CSJ. Confocal imaging-guided laser ablation of basal cell carcinomas: an ex vivo study. J Invest Dermatol. 2015;135(2):612-5.
Shiloh Y. Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annual Rev Genetics. 1997;4:31.
Braun A, Ambach H, Kammerer S. Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. Am J Hum Genet. 1995;56(4):854-861.
Kamiguchi H, Hlavin ML, Yamasaki M, Lemmon V. Adhesion molecules and inherited diseases of the human nervous system. Annual review of neuroscience. 1998;21(1):97-125.
Uhlmann EJ, Apicelli AJ, Baldwin RL, Burke SP, Bajenaru ML, Onda H, Kwiatkowski D, Gutmann DH. Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/− cells. Oncogene. 2002;21(25):4050-9.
Jansen A, Andermann E. Genetics of the polymicrogyria syndromes. J Med Genetics. 2005;42(5):369-78.
Rickert CH, Sträter R, Kaatsch P, Wassmann H, Jürgens H, Dockhorn-Dworniczak B, Paulus W. Pediatric high-grade astrocytomas show chromosomal imbalances distinct from adult cases. Am J Pathol. 2001;158(4):1525-32.
Yamamoto Y, Mizuno R, Nishimura T, Ogawa Y, Yoshikawa H, Fujimura H, et al. Cloning and expression of myelin-associated oligodendrocytic basic protein. A novel basic protein constituting the central nervous system myelin. J Biol Chemistry. 1994;269(50):31725-30.
Joshi A, Miller Jr C, Baker SJ, Ellenson LH. Activated mutant p110α causes endometrial carcinoma in the setting of biallelic Pten deletion. Am J Pathol. 2015;185(4):1104-13.
Kanno H, Kondo K, Ito S, Yamamoto I, Fujii S, Torigoe S, et al. Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res. 1994;54(18):4845-7.14.
Rubin DH, Fields BN. Molecular basis of reovirus virulence. Role of the M2 gene. J Experimental Med. 1980;152(4):853-68.
Heglind M, Cederberg A, Aquino J, Lucas G, Ernfors P, Enerbäck S. Lack of the central nervous system-and neural crest-expressed forkhead gene Foxs1 affects motor function and body weight. Molecular Cellular Biol. 2005;25(13):5616-25.
Zhang X, Li Y, Xiao YY, Xing N, Liu SR, Ma XY, Wu B. Imaging features of Von Hippel-Lindau syndrome. Chinese J Med Imaging Tech. 2010;7:21-9.