Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

Bibiana K Y Wong, Vernon R Sutton, Richard A Lewis, Ignatia B Van den Veyver, Bibiana K Y Wong, Vernon R Sutton, Richard A Lewis, Ignatia B Van den Veyver

Abstract

Background: Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous.

Methods: To investigate this further, we sequenced TEAD1 and OCEL1 coding regions using DNA from 38 clinically well-characterized girls with Aicardi syndrome.

Results: We did not detect the previously reported or any other deleterious variants in any of the analyzed samples.

Conclusions: This suggests that the published variants represent either an extremely rare cause of Aicardi syndrome or an incidental finding.

Keywords: Aicardi syndrome; OCEL1; TEAD1; candidate genes.

References

    1. Aicardi, J. 1999. Aicardi syndrome: old and new findings. Int. J. Pediatr. 14:5–8.
    1. Aicardi, J. 2005. Aicardi syndrome. Brain Dev. 27:164–171.
    1. Aicardi, J. , Levebre J., and Lerique‐Koechlin A.. 1965. A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr. Clin. Neurophysiol. 19:609–610.
    1. Brazitikos, P. D. , and Safran A. B.. 1990. Helicoid peripapillary chorioretinal degeneration. Am. J. Ophthalmol. 109:290–294.
    1. Donnenfeld, A. E. , Packer R. J., Zackai E. H., Chee C. M., Sellinger B., and Emanuel B. S.. 1989. Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome. Am. J. Med. Genet. 32:461–467.
    1. Eble, T. N. , Sutton V. R., Sangi‐Haghpeykar H., Wang X., Jin W., Lewis R. A., et al. 2009. Non‐random X chromosome inactivation in Aicardi syndrome. Hum. Genet. 125:211–216.
    1. Fossdal, R. , Magnusson L., Weber J. L., and Jensson O.. 1995. Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. Hum. Mol. Genet. 4:479–483.
    1. Fossdal, R. , Jonasson F., Kristjansdottir G. T., Kong A., Stefansson H., Gosh S., et al. 2004. A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). Hum. Mol. Genet. 13:975–981.
    1. Fruhman, G. , Eble T. N., Gambhir N., Sutton V. R., Van den Veyver I. B., and Lewis R. A.. 2012. Ophthalmologic findings in Aicardi syndrome. J. AAPOS 16:238–241.
    1. Glasmacher, M. A. , Sutton V. R., Hopkins B., Eble T., Lewis R. A., Park Parsons D., et al. 2007. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J. Child Neurol. 22:176–184.
    1. Hopkins, I. J. , Humphrey I., Keith C. G., Susman M., Webb G. C., and Turner E. K.. 1979. The Aicardi syndrome in a 47, XXY male. Aust. Paediatr. J. 15:278–280.
    1. Hopkins, B. , Sutton V. R., Lewis R. A., Van den Veyver I., and Clark G.. 2008. Neuroimaging aspects of Aicardi syndrome. Am. J. Med. Genet. A 146A:2871–2878.
    1. Jensen, R. A. , Sim X., Smith A. V., Li X., Jakobsdottir J., Cheng C. Y., et al. 2016. Novel genetic loci associated with retinal microvascular diameter. Circ. Cardiovasc. Genet. 9:45–54.
    1. Jonasson, F. , Hardarson S., Olafsson B. M., and Klintworth G. K.. 2007. Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration: first histopathology report. Ophthalmology 114:1541–1546.
    1. Kitagawa, M. 2007. A Sveinsson's chorioretinal atrophy‐associated missense mutation in mouse Tead1 affects its interaction with the co‐factors YAP and TAZ. Biochem. Biophys. Res. Commun. 361:1022–1026.
    1. Landin Malt, A. , Georges A., Silber J., Zider A., and Flagiello D.. 2013. Interaction with the Yes‐associated protein (YAP) allows TEAD1 to positively regulate NAIP expression. FEBS Lett. 587:3216–3223.
    1. Panagis, L. , Zhao X., Ge Y., Ren L., Mittag T. W., and Danias J.. 2011. Retinal gene expression changes related to IOP exposure and axonal loss in DBA/2J mice. Invest. Ophthalmol. Vis. Sci. 52:7807–7816.
    1. Rozen, S. , and Skaletsky H.. 2000. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 132:365–386.
    1. Sawada, A. , Kiyonari H., Ukita K., Nishioka N., Imuta Y., and Sasaki H.. 2008. Redundant roles of Tead1 and Tead2 in notochord development and the regulation of cell proliferation and survival. Mol. Cell. Biol. 28:3177–3189.
    1. Schrauwen, I. , Szelinger S., Siniard A. L., Corneveaux J. J., Kurdoglu A., Richholt R., et al. 2015. A de novo mutation in TEAD1 causes non‐X‐linked Aicardi syndrome. Invest. Ophthalmol. Vis. Sci. 56:3896–3904.
    1. Shetty, J. , Fraser J., Goudie D., and Kirkpatrick M.. 2014. Aicardi syndrome in a 47 XXY male ‐ a variable developmental phenotype? Eur. J. Paediatr. Neurol. 18:529–531.
    1. Sutton, V. R. and Van den Veyver I. B.. 2014. Aicardi syndrome. In: Pagon R. A., Adam M. P., Ardinger H. H., et al., eds. GeneReviews® [Internet]. University of Washington, Seattle, WA: Available from: (accessed 2014 Nov 6).
    1. Sutton, V. R. , Hopkins B. J., Eble T. N., Gambhir N., Lewis R. A., and Van den Veyver I. B.. 2005. Facial and physical features of Aicardi syndrome: infants to teenagers. Am. J. Med. Genet. A 138A:254–258.
    1. Taggard, D. A. , and Menezes A. H.. 2000. Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report. Pediatr. Neurosurg. 33:219–223.
    1. Wang, X. , Sutton V. R., Eble T. N., Lewis R. A., Gunaratne P., Patel A., et al. 2009. A genome‐wide screen for copy number alterations in Aicardi syndrome. Am. J. Med. Genet. A 149A:2113–2121.
    1. Yilmaz, S. , Fontaine H., Brochet K., Gregoire M. J., Devignes M. D., Schaff J. L., et al. 2007. Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array‐CGH. Eur. J. Med. Genet. 50:386–391.
    1. Yuan, H. , Liu H., Liu Z., Zhu D., Amos C. I., Fang S., et al. 2015. Genetic variants in Hippo pathway genes YAP1, TEAD1 and TEAD4 are associated with melanoma‐specific survival. Int. J. Cancer 137:638–645.

Source: PubMed

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