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. 2021 Mar 4;12:640992. doi: 10.3389/fgene.2021.640992

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Copyright © 2021 Lin, He, Huang, Liu, Lei, Wu, Huang, Zhou and Luo.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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(A) Family pedigree and Sanger sequencing results of the CREBBP variant. The arrows indicate the variant c.3235C>T in the siblings. (B,C) Photos of the two siblings. (D,E) Hand morphology of the two siblings. Typical features include broad and angulated thumbs. (F) Sequence read alignment of the c.3235C>T (16:3817736:G>A) site from the BAM files of trio whole-exome sequencing using Integrative Genomics Viewer (v2.8.1) indicated a variant allele fraction for c.3235C>T of ~50% in the siblings but not in the parents. (G) Sequence read alignment of the c.3235C>T (16:3817736:G>A) site from the BAM files of high-depth next-generation sequencing using Integrative Genomics Viewer (v2.8.1) indicated a variant allele fraction for c.3235C>T of ~3.64% (336/9225 reads) and 1.94% (173/8896 reads) in the peripheral blood and buccal mucosa of the mother, respectively.