Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

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Authors
Begemann, M. [et al] inc.
Turner, Claire L.
Journal
Journal of medical genetics
Type
Journal Article
Publisher
BMJ
Rights
Archived with thanks to Journal of medical genetics. This is an Open access article distributed in accordance with the terms of the creative commons attribution (cc BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http:// creativecommons. org/ licenses/ by/ 4. 0/
Genomic imprinting results from the resistance of germline epigenetic marks to reprogramming in the early embryo for a small number of mammalian genes. Genetic, epigenetic or environmental insults that prevent imprints from evading reprogramming may result in imprinting disorders, which impact growth, development, behaviour and metabolism. We aimed to identify genetic defects causing imprinting disorders by whole-exome sequencing in families with one or more members affected by multilocus imprinting disturbance.
Citation
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. 2018 J. Med. Genet.
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