Genetic testing in fetuses with isolated agenesis of the corpus callosum

References

• Marsh AP, Heron D, Edwards TJ, et al. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nat Genet. 2017;49(4):511–514.
   PubMed Web of Science ®Google Scholar
• Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007;8(4):287–299.
   PubMed Web of Science ®Google Scholar
• Chaudhry A, Chung BH, Stavropoulos DJ, et al. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. Am J Med Genet A. 2017;173(9):2467–2471.
   PubMed Web of Science ®Google Scholar
• de Wit MC, Boekhorst F, Mancini GM, et al. Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound. Prenat Diagn. 2017;37(12):1191–1197.
   PubMed Web of Science ®Google Scholar
• D’Antonio F, Pagani G, Familiari A, et al. Outcomes associated with isolated agenesis of the corpus callosum: a meta-analysis. Pediatrics. 2016;138(3). DOI:10.1542/peds.2016-0445
   PubMed Web of Science ®Google Scholar
• Sotiriadis A, Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol. 2012;206(4):337.e1–337.e5.
   Web of Science ®Google Scholar
• Fratelli N, Papageorghiou AT, Prefumo F, et al. Outcome of prenatally diagnosed agenesis of the corpus callosum. Prenat Diagn. 2007;27(6):512–517.
   PubMed Web of Science ®Google Scholar
• Ghi T, Carletti A, Contro E, et al. Prenatal diagnosis and outcome of partial agenesis and hypoplasia of the corpus callosum. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 2010;35(1):35–41.
   PubMed Web of Science ®Google Scholar
• Moutard ML, Kieffer V, Feingold J, et al. Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst chNS Off J Int Soc Pediatr Neurosurg. 2003;19(7–8):471–476.
   PubMed Web of Science ®Google Scholar
• Sherr EH, Owen R, Albertson DG, et al. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005;65(9):1496–1498.
   PubMed Web of Science ®Google Scholar
• Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A. 2008;146A(19):2501–2511.
   PubMed Web of Science ®Google Scholar
• Wang R, Lei T, Fu F, et al. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China. Pediatr Neonatol. 2019;60(1):35–42.
   PubMed Web of Science ®Google Scholar
• Manning M, Hudgins L, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742–745.
   PubMed Web of Science ®Google Scholar
• Xia Y, Yang Y, Huang S, et al. Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease. Prenat Diagn. 2018;38(6):406–413.
   PubMed Web of Science ®Google Scholar
• Micale MA, Embrey Bt, Macknis JK, et al. Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor. Eur J Med Genet. 2016;59(12):618–623.
   PubMed Web of Science ®Google Scholar
• Al-Hashim AH, Blaser S, Raybaud C, et al. Corpus callosum abnormalities: neuroradiological and clinical correlations. Dev Med Child Neurol. 2016;58(5):475–484.
   PubMed Web of Science ®Google Scholar
• Rüland AM, Gloning KP, Albig M, et al. The incidence of chromosomal aberrations in prenatally diagnosed isolated agenesis of the corpus callosum. Ultraschall Med. 2017;38(6):626–632.
   PubMed Web of Science ®Google Scholar
• Edwards TJ, Sherr EH, Barkovich AJ, et al. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. Brain. 2014;137(6):1579–1613.
   PubMed Web of Science ®Google Scholar
• Özer Kaya Ö, Koç A, Özdemir TR, et al. QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey. Turk J Med Sci. 2017;47(1):142–147.
   PubMed Web of Science ®Google Scholar
• Wu XL, Li R, Fu F, et al. Chromosome microarray analysis in the investigation of children with congenital heart disease. BMC Pediatr. 2017;17(1):117.
   PubMed Web of Science ®Google Scholar
• Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011;13(7):680–685.
   PubMed Web of Science ®Google Scholar
• Barkovich AJ, Norman D. Anomalies of the corpus callosum: correlation with further anomalies of the brain. AJR Am J Roentgenol. 1988;151(1):171–179.
   PubMed Web of Science ®Google Scholar
• Han JC, Thurm A, Golden Williams C, et al. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. Cortex. 2013;49(10):2700–2710.
   PubMed Web of Science ®Google Scholar
• Cheng PL, Song AH, Wong YH, et al. Self-amplifying autocrine actions of BDNF in axon development. Proc Natl Acad Sci USA. 2011;108(45):18430–18435.
   PubMed Web of Science ®Google Scholar
• Chiang MC, Barysheva M, Toga AW, et al. BDNF gene effects on brain circuitry replicated in 455 twins. NeuroImage. 2011;55(2):448–454.
   PubMed Web of Science ®Google Scholar
• Zhou Y, Hassel B, Eid T, et al. Axon-terminals expressing EAAT2 (GLT-1; Slc1a2) are common in the forebrain and not limited to the hippocampus. Neurochem Int. 2019;123:101–113.
   PubMed Web of Science ®Google Scholar
• Macnab LT, Pow DV. Expression of the exon 9-skipping form of EAAT2 in astrocytes of rats. Neuroscience. 2007;150(3):705–711.
   PubMed Web of Science ®Google Scholar
• Yatomi Y, Tanaka R, Shimura H, et al. Chronic brain ischemia induces the expression of glial glutamate transporter EAAT2 in subcortical white matter. Neuroscience. 2013;244:113–121.
   PubMed Web of Science ®Google Scholar
• Romaniello R, Marelli S, Giorda R, et al. Clinical characterization, genetics, and long-term follow-up of a large cohort of patients with agenesis of the corpus callosum. J Child Neurol. 2017;32(1):60–71.
   PubMed Web of Science ®Google Scholar
• Barker-Haliski M, White HS. Glutamatergic mechanisms associated with seizures and epilepsy. Cold Spring Harb Perspect Med. 2015;5(8):a022863.
   PubMed Web of Science ®Google Scholar
• Sun J, Rockowitz S, Xie Q, et al. Identification of in vivo DNA-binding mechanisms of Pax6 and reconstruction of Pax6-dependent gene regulatory networks during forebrain and lens development. Nucleic Acids Res. 2015;43(14):6827–6846.
   PubMed Web of Science ®Google Scholar
• Hiraoka K, Sumiyoshi A, Nonaka H, et al. Regional volume decreases in the brain of Pax6 heterozygous mutant rats: MRI deformation-based morphometry. PLoS One. 2016;11(6):e0158153.
   PubMed Web of Science ®Google Scholar
• Boretius S, Michaelis T, Tammer R, et al. In vivo MRI of altered brain anatomy and fiber connectivity in adult pax6 deficient mice. Cereb Cortex. 2009;19(12):2838–2847.
   PubMed Web of Science ®Google Scholar
• O’Driscoll MC, Black GC, Clayton-Smith J, et al. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010;152A(9):2145–2159.
   PubMed Web of Science ®Google Scholar
• Bennett GL, Bromley B, Benacerraf BR. Agenesis of the corpus callosum: prenatal detection usually is not possible before 22 weeks of gestation. Radiology. 1996;199(2):447–450.
   PubMed Web of Science ®Google Scholar
• Puthuran MJ, Rowland-Hill CA, Simpson J, et al. Chromosome 1q42 deletion and agenesis of the corpus callosum. Am J Med Genet A. 2005;138(1):68–69.
   PubMed Web of Science ®Google Scholar
• Gonzales E, Caeymaex L, Aboura A, et al. Cocaine and trisomy 8 associated with prenatal diagnosis of corpus callosum agenesis. J Gynecol Obstet Biol Reprod (Paris). 2005;34(8):803–806.
   PubMedGoogle Scholar
• Ozyüncü O, Yazıcıoğlu A, Turğal M. Antenatal diagnosis and outcome of agenesis of corpus callosum: a retrospective review of 33 cases. J Turk Ger Gynecol Assoc. 2014;15(1):18–21.
   PubMedGoogle Scholar
• Goetzinger KR, Stamilio DM, Dicke JM, et al. Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations. Am J Obstet Gynecol. 2008;199(3):285.e1–285.e6.
   Web of Science ®Google Scholar
• Pilu G, Sandri F, Perolo A, et al. Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 1993;3(5):318–329.
   PubMed Web of Science ®Google Scholar
• Volpe P, Paladini D, Resta M, et al. Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 2006;27(5):509–516.
   PubMed Web of Science ®Google Scholar
• Francesco P, Maria-Edgarda B, Giovanni P, et al. Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome? Pediatr Int. 2006;48(3):298–304.
   PubMed Web of Science ®Google Scholar