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A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.
Ann Plast Surg. 2019 05; 82(5):570-573.AP

Abstract

BACKGROUND

GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly. This study intended to perform a mutation analysis of GLl3 in a family with isolated polydactyly.

METHODS

A 3-generation Chinese family with 19 members was recruited in this study, of which the proband and her mother were affected with polydactyly. The whole-exon sequencing was performed to find mutations, and Sanger sequencing was performed to validate the mutations.

RESULTS

We found a novel heterozygous frameshift mutation of GLI3 (c.1180C > TT, p.P394fs18x) in the proband of a Chinese family with isolated postaxial polydactyly. No mutation was detected in the proband's father or another 2 patients with sporadic preaxial polydactyly.

CONCLUSIONS

By systematically reviewing the gene-phenotype relationship, we found that GLI3 p.P394fs18x mutation might be specific for isolated postaxial polydactyly.

Authors+Show Affiliations

From the Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, PR China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

30562203

Citation

Ni, Feng, et al. "A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly." Annals of Plastic Surgery, vol. 82, no. 5, 2019, pp. 570-573.
Ni F, Han G, Guo R, et al. A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. Ann Plast Surg. 2019;82(5):570-573.
Ni, F., Han, G., Guo, R., Cui, H., Wang, B., & Li, Q. (2019). A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. Annals of Plastic Surgery, 82(5), 570-573. https://doi.org/10.1097/SAP.0000000000001685
Ni F, et al. A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. Ann Plast Surg. 2019;82(5):570-573. PubMed PMID: 30562203.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. AU - Ni,Feng, AU - Han,Gang, AU - Guo,Ruiji, AU - Cui,Hengqing, AU - Wang,Bin, AU - Li,Qingfeng, PY - 2018/12/19/pubmed PY - 2020/5/8/medline PY - 2018/12/19/entrez SP - 570 EP - 573 JF - Annals of plastic surgery JO - Ann Plast Surg VL - 82 IS - 5 N2 - BACKGROUND: GLI3 encodes a transcription factor in the sonic hedgehog signaling pathway, which is essential in regulating the human limb bud development, especially on the anteroposterior axis. Mutations in GLI3 have been confirmed to be associated with various human congenital malformations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, and isolated polydactyly. A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly. This study intended to perform a mutation analysis of GLl3 in a family with isolated polydactyly. METHODS: A 3-generation Chinese family with 19 members was recruited in this study, of which the proband and her mother were affected with polydactyly. The whole-exon sequencing was performed to find mutations, and Sanger sequencing was performed to validate the mutations. RESULTS: We found a novel heterozygous frameshift mutation of GLI3 (c.1180C > TT, p.P394fs18x) in the proband of a Chinese family with isolated postaxial polydactyly. No mutation was detected in the proband's father or another 2 patients with sporadic preaxial polydactyly. CONCLUSIONS: By systematically reviewing the gene-phenotype relationship, we found that GLI3 p.P394fs18x mutation might be specific for isolated postaxial polydactyly. SN - 1536-3708 UR - https://www.unboundmedicine.com/medline/citation/30562203/A_Novel_Frameshift_Mutation_of_GLI3_Causes_Isolated_Postaxial_Polydactyly_ L2 - https://doi.org/10.1097/SAP.0000000000001685 DB - PRIME DP - Unbound Medicine ER -