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Review
. 2020 Mar;184(1):107-115.
doi: 10.1002/ajmg.c.31762. Epub 2020 Jan 7.

Other genomic disorders and congenital heart disease

Seema R Lalani  1
Affiliations
Review

Other genomic disorders and congenital heart disease

Seema R Lalani. Am J Med Genet C Semin Med Genet. 2020 Mar.

Abstract

Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.

Keywords: NAHR; chromosomal microarray analysis; congenital heart disease; genomic disorders.

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References

REFERENCES

    1. Al Turki, S., Manickaraj, A. K., Mercer, C. L., Gerety, S. S., Hitz, M. P., Lindsay, S., … Hurles, M. E. (2014). Rare variants in NR2F2 cause congenital heart defects in humans. American Journal of Human Genetics, 94(4), 574-585. https://doi.org/10.1016/j.ajhg.2014.03.007
    1. Aranguren, X. L., Beerens, M., Vandevelde, W., Dewerchin, M., Carmeliet, P., & Luttun, A. (2011). Transcription factor COUP-TFII is indispensable for venous and lymphatic development in zebrafish and Xenopus laevis. Biochemical and Biophysical Research Communications, 410(1), 121-126. https://doi.org/10.1016/j.bbrc.2011.05.117
    1. Ballif, B. C., Theisen, A., Rosenfeld, J. A., Traylor, R. N., Gastier-Foster, J., Thrush, D. L., … Shaffer, L. G. (2010). Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. American Journal of Human Genetics, 86(3), 454-461. https://doi.org/10.1016/j.ajhg.2010.01.038
    1. Baptista, J., Mercer, C., Prigmore, E., Gribble, S. M., Carter, N. P., Maloney, V., … Crolla, J. A. (2008). Breakpoint mapping and array CGH in translocations: Comparison of a phenotypically normal and an abnormal cohort. American Journal of Human Genetics, 82(4), 927-936. https://doi.org/10.1016/j.ajhg.2008.02.012
    1. Barber, J. C., Bunyan, D., Curtis, M., Robinson, D., Morlot, S., Dermitzel, A., … Maloney, V. K. (2010). 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families. Molecular Cytogenetics, 3, 3. https://doi.org/10.1186/1755-8166-3-3

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