Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.

CONCLUSION: Genomic sequencing technologies are valuable for the identification of novel and emerging candidate genes. Biallelic variants in PPP1R13L were previously reported in a single consanguineous family with paediatric DCM. The identification here of a further five families now provides sufficient evidence to support a robust gene-disease association between PPP1R13L and severe paediatric DCM. The PPP1R13L gene should be included in panel-based genetic testing for paediatric DCM. PMID: 32666529 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32666529?dopt=Abstract

Source: Clinical Genetics - July 14, 2020 Category: Genetics & Stem Cells Authors: Robinson HK, Zaklyazminskaya E, Povolotskaya I, Surikova Y, Mallin L, Armstrong C, Mabin D, Benke PJ, Chrisant MR, McDonald M, Marboe CC, Agre KE, Deyle DR, McWalter K, Douglas G, Balashova KM, Kaimonov V, Shirokova N, Pomerantseva E, Turner CL, Ellard S Tags: Clin Genet Source Type: research