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Case Reports
. 2019 Nov 9;20(1):174.
doi: 10.1186/s12881-019-0889-5.

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

Qianqian Zou  1 , Zhigang Tian  2 , Jie Zheng  1 , Xiufang Zhi  1 , Xiaojie Du  2 , Jianbo Shu  3 , Chunquan Cai  4
Affiliations
Case Reports

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

Qianqian Zou et al. BMC Med Genet. .

Abstract

Background: Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.

Case presentation: The patient was a 2-year-old boy who underwent surgery in our hospital. The right hand and left foot of the patient were labelled as postaxial polydactyly type B, and there was cutaneous webbing between the 3rd and 4th fingers of the left hand. We identified a novel c. 1622C > T variant in GLI3 leading to an isolated postaxial synpolydactyly.

Conclusions: The patient carries a novel autosomal dominant heterozygous missense mutation. This mutation c.1622C > T;p.(Thr541Met) in the GLI3 gene may affect the normal function of the zinc finger domain (ZFD) in a different way. However, it seems that more research is needed to determine the exact effects of this mutation.

Keywords: GLI3 gene; Gene mutation; Synpolydactyly.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
The clinical phenotype. a. Family tree of the studied individuals (the individuals included in this study are specified by asterisks). Both hands of the proband’s grandfather were classified as post-axial polydactyly type B (individual II:6). The father’s left hand was classified as post-axial polydactyly type B (individual III:2). The patient’s right hand was classified as post-axial polydactyly, and his left hand had cutaneous webbing between the 3rd and 4th fingers; his left foot had a well-formed digit on the fibular aspect (individual IV:1) (b, c and d)
Fig. 2
Fig. 2
Sequencing data of the GLI3 gene in the patient and his family. The arrows indicate the position of the c.1622C > T; p.(Thr541Met) substitution
Fig. 3
Fig. 3
p.Thr541 in GLI3 is highly conserved among at least seven species. The arrows indicate the position of the p.Thr541Met substitution
Fig. 4
Fig. 4
Structural modelling of the predicted wild type (a) and mutant p. Thr541Met (b) proteins. The mutation is near the second zinc finger
See this image and copyright information in PMC

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