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. 2025 Mar 7;13(3):e70088. doi: 10.1002/mgg3.70088

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© 2025 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Clinical manifestations and genetic information analysis of Family 1. (a) Family pedigree of Chinese family 1 with polydactyly. The proband is indicated by an arrow. I and II indicate first and second generations, respectively. (b, c) The proband (11‐1) mesoarial polydactyly of the right hand, the fingers of both hands were shorter, and the fingernails of the proband on both hands were stunted in family 1. (d) The low ear position of the proband is shown. (e, f) Dental dysplasia in the proband is shown. (g) Sequencing analysis of GLl3.A frameshift mutation (c.3342dup, p. A11lSRfs*14) in the affected individuals (Family 1: 11‐1) is indicated by a red arrow. The family members without polydactyly (1‐1 and 1‐2) did not carry this mutation. (h) Location of the mutant amino acid in the GLl3 protein domain. (i) The conservation analysis of affected amino acids among different mammals. (i) Modeling the Structure of Wild and Truncated GLI3 Proteins using PyMOL.