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A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.
BMC Med Genet. 2019 11 09; 20(1):174.BM

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.

Authors+Show Affiliations

Graduate College of Tianjin Medical University, Tianjin, China.Department of Orthopaedics, Tianjin Children's Hospital, Tianjin, China.Graduate College of Tianjin Medical University, Tianjin, China.Graduate College of Tianjin Medical University, Tianjin, China.Department of Orthopaedics, Tianjin Children's Hospital, Tianjin, China.Institute of Paediatrics, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin, China. shjb1981@sina.com.Department of Neurosurgery, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin, China. cqcns6@126.com.

Pub Type(s)

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

Language

eng

PubMed ID

31706290

Citation

Zou, Qianqian, et al. "A Novel Missense in GLI3 Possibly Affecting One of the Zinc Finger Domains May Lead to Postaxial Synpolydactyly: Case Report." BMC Medical Genetics, vol. 20, no. 1, 2019, p. 174.
Zou Q, Tian Z, Zheng J, et al. A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report. BMC Med Genet. 2019;20(1):174.
Zou, Q., Tian, Z., Zheng, J., Zhi, X., Du, X., Shu, J., & Cai, C. (2019). A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report. BMC Medical Genetics, 20(1), 174. https://doi.org/10.1186/s12881-019-0889-5
Zou Q, et al. A Novel Missense in GLI3 Possibly Affecting One of the Zinc Finger Domains May Lead to Postaxial Synpolydactyly: Case Report. BMC Med Genet. 2019 11 9;20(1):174. PubMed PMID: 31706290.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report. AU - Zou,Qianqian, AU - Tian,Zhigang, AU - Zheng,Jie, AU - Zhi,Xiufang, AU - Du,Xiaojie, AU - Shu,Jianbo, AU - Cai,Chunquan, Y1 - 2019/11/09/ PY - 2019/04/26/received PY - 2019/09/06/accepted PY - 2019/11/11/entrez PY - 2019/11/11/pubmed PY - 2020/2/15/medline KW - GLI3 gene KW - Gene mutation KW - Synpolydactyly SP - 174 EP - 174 JF - BMC medical genetics JO - BMC Med Genet VL - 20 IS - 1 N2 - 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. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/31706290/A_novel_missense_in_GLI3_possibly_affecting_one_of_the_zinc_finger_domains_may_lead_to_postaxial_synpolydactyly:_case_report_ L2 - https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0889-5 DB - PRIME DP - Unbound Medicine ER -