Top

BMC Medical Genetics

Published in:

Open Access 01-12-2019 | Case report

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

Authors: Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu, Chunquan Cai

Published in: BMC Medical Genetics | Issue 1/2019

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.

Castilla E, Paz J, Mutchinick O, Munoz E, Giorgiutti E, Gelman Z. Polydactyly: a genetic study in South America. Am J Hum Genet. 1973;25(4):405–12.PubMedPubMedCentral

Biesecker LG. Polydactyly: how many disorders and how many genes? Am J Med Genet. 2002;112(3):279–83.CrossRef

Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS. GLI3-related polydactyly: a review. Clin Genet. 2017;92(5):457–66.CrossRef

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–9.CrossRef

Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 2012;40(Web Server issue:W452–7.CrossRef

Kuijper S, Feitsma H, Sheth R, Korving J, Reijnen M, Meijlink F. Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh. Dev Biol. 2005;285(2):533–44.CrossRef

Biesecker LG. Polydactyly: how many disorders and how many genes? 2010 update. Dev Dyn. 2011;240(5):931–42.CrossRef

Hill P, Gotz K, Ruther U. A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud. Dev Biol. 2009;328(2):506–16.CrossRef

Demurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quelin C, Manouvrier S, Baujat G, Fradin M, et al. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015;23(1):92–102.CrossRef

10.

Kang S, Rosenberg M, Ko VD, Biesecker LG. Gene structure and allelic expression assay of the human GLI3 gene. Hum Genet. 1997;101(2):154–7.CrossRef

Title: A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report
Authors: Qianqian Zou
Zhigang Tian
Jie Zheng
Xiufang Zhi
Xiaojie Du
Jianbo Shu
Chunquan Cai
Publication date: 01-12-2019
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2019
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-019-0889-5

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2019

Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility

Assessment of risk based on variant pathways and establishment of an artificial neural network model of thyroid cancer

Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria

Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families