The role of de novo variants in formation of human anorectal malformations

Dworschak GC, van Rooij IA, Reutter HM (2021)


Publication Type: Journal article, Review article

Publication year: 2021

Journal

Book Volume: 12

Article Number: 1298

Journal Issue: 9

DOI: 10.3390/genes12091298

Abstract

Anorectal malformations (ARM) represent a rare birth defect of the hindgut that occur in approximately 1 in 3000 live births. Around 60% of ARM occur with associated anomalies including defined genetic syndromes and associations with chromosomal aberrations. The etiology of ARM is heterogeneous, with the individual environmental or genetic risk factors remaining unknown for the majority of cases. The occurrence of familial ARM and previous epidemiologic analysis suggest autosomal dominant inheritance in a substantial subset of ARM patients. The implicated mortality and reduced fecundity in patients with ARM would lead to allele loss. However, mutational de novo events among the affected individuals could compensate for the evolutionary pressure. With the implementation of exome sequencing, array-based molecular karyotyping and family-based rare variant analyses, the technologies are available to identify the respective factors. This review discusses the identification of disease-causing variants among individuals with ARM. It highlights the role of mutational de novo events.

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How to cite

APA:

Dworschak, G.C., van Rooij, I.A., & Reutter, H.M. (2021). The role of de novo variants in formation of human anorectal malformations. Genes, 12(9). https://doi.org/10.3390/genes12091298

MLA:

Dworschak, Gabriel C., Iris A.L.M. van Rooij, and Heiko Martin Reutter. "The role of de novo variants in formation of human anorectal malformations." Genes 12.9 (2021).

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