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. 2023 Aug 12;23:399. doi: 10.1186/s12872-023-03417-2

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 3 — (A) Pedigree of Case 2. The proband carried compound heterozygous variants in KCNQ1, including c.1663 C > T and a large deletion causing loss of exon16. The missense variant was transmitted from her father, whereas the deletion was transmitted from her mother. (B) KCNQ1 c.1663 C > T were identified through WES and validated with Sanger sequencing; (C) MLPA probe confirmed a large deletion causing loss of KCNQ1 exon 16; (D) The ECG of the proband in Case 2 shows the significantly prolonged QTc interval(576ms)