Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Lee M, Kwong AKY, Chui MMC, Chau JFT, Mak CCY, Au SLK, Lo HM, Chan KYK, Yepez VA, Gagneur J, Kan ASY, Chung BHY (2022)

Publication Type: Journal article

Publication year: 2022

Journal

npj Genomic Medicine Nature Publishing Group

Book Volume: 7

Article Number: 74

Journal Issue: 1

DOI: 10.1038/s41525-022-00347-4

Abstract

RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance. However, the use of amniotic fluid (AF) cells for RNA-seq has not yet been explored. Here, we examined the expression of clinically relevant genes in AF cells (n = 48) compared with whole blood and fibroblasts. The number of well-expressed genes in AF cells was comparable to that in fibroblasts and much higher than that in blood across different disease categories. We found AF cells RNA-seq feasible and beneficial in prenatal diagnosis (n = 4) as transcriptomic data elucidated the molecular consequence leading to the pathogenicity upgrade of variants in CHD7 and COL1A2 and revising the in silico prediction of a variant in MYRF. AF cells RNA-seq could become a reasonable choice for postnatal patients with advantages over fibroblasts and blood as it prevents invasive procedures.

Involved external institutions

Technische Universität München (TUM)

Germany (DE) University of Hong Kong (HKU) / 香港大學

Hong Kong (HK)

How to cite

APA:

Lee, M., Kwong, A.K.Y., Chui, M.M.C., Chau, J.F.T., Mak, C.C.Y., Au, S.L.K.,... Chung, B.H.Y. (2022). Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept. npj Genomic Medicine, 7(1). https://doi.org/10.1038/s41525-022-00347-4

MLA:

Lee, Mianne, et al. "Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept." npj Genomic Medicine 7.1 (2022).

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