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Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
Clin Chim Acta. 2014 Jun 10; 433:195-9.CC

Abstract

Polydactyly is a common congenital limb deformity. This anomaly may occur in isolation (non-syndromic) or as part of a syndrome. The glioma-associated oncogene family zinc finger 3 (GLI3) is known to be associated with both syndromic and non-syndromic polydactyly. GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister-Hall syndrome. The knowledge regarding the contribution of GLI3 in non-syndromic polydactyly is currently very limited. In this study, we assembled a cohort of individuals of Chinese ethnicity with non-syndromic postaxial polydactyly. We presented the clinical features and molecular evaluations of 19 probands. GLI3 mutations were identified in 15.8% of probands (3/19) including two novel frame-shift mutations c.3855dupC (p.Met1286HisfsTer18) and c.4141delA (p.Arg1381GlyfsTer38) detected in sporadic cases and one previously reported nonsense mutation (c.1927C>T/p.Arg643Ter) in a familial case. Of note, GLI3 mutations were exclusively detected in patients with bilateral polydactyly affecting both hands and feet. Three out of five (60%) probands with bilateral polydactyly on both hands and feet carried pathogenic mutations in GLI3. Our study demonstrated the role of GLI3 in a significant fraction of patients with non-syndromic bilateral polydactyly affecting both hands and feet.

Authors+Show Affiliations

Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA 02115, USA.Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China. Electronic address: xu.yunlan@hotmail.com.Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: yiping.shen@childrens.harvard.edu.

Pub Type(s)

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

Language

eng

PubMed ID

24667698

Citation

Wang, Zhigang, et al. "Novel Frame-shift Mutations of GLI3 Gene in Non-syndromic Postaxial Polydactyly Patients." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 433, 2014, pp. 195-9.
Wang Z, Wang J, Li Y, et al. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. Clin Chim Acta. 2014;433:195-9.
Wang, Z., Wang, J., Li, Y., Geng, J., Fu, Q., Xu, Y., & Shen, Y. (2014). Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. Clinica Chimica Acta; International Journal of Clinical Chemistry, 433, 195-9. https://doi.org/10.1016/j.cca.2014.03.012
Wang Z, et al. Novel Frame-shift Mutations of GLI3 Gene in Non-syndromic Postaxial Polydactyly Patients. Clin Chim Acta. 2014 Jun 10;433:195-9. PubMed PMID: 24667698.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. AU - Wang,Zhigang, AU - Wang,Jian, AU - Li,Yuchan, AU - Geng,Juan, AU - Fu,Qihua, AU - Xu,Yunlan, AU - Shen,Yiping, Y1 - 2014/03/22/ PY - 2014/01/08/received PY - 2014/02/27/revised PY - 2014/03/13/accepted PY - 2014/3/27/entrez PY - 2014/3/29/pubmed PY - 2015/1/16/medline KW - Frame-shift mutations KW - GLI3 gene KW - Non-syndromic polydactyly KW - Postaxial polydactyly SP - 195 EP - 9 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin Chim Acta VL - 433 N2 - Polydactyly is a common congenital limb deformity. This anomaly may occur in isolation (non-syndromic) or as part of a syndrome. The glioma-associated oncogene family zinc finger 3 (GLI3) is known to be associated with both syndromic and non-syndromic polydactyly. GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister-Hall syndrome. The knowledge regarding the contribution of GLI3 in non-syndromic polydactyly is currently very limited. In this study, we assembled a cohort of individuals of Chinese ethnicity with non-syndromic postaxial polydactyly. We presented the clinical features and molecular evaluations of 19 probands. GLI3 mutations were identified in 15.8% of probands (3/19) including two novel frame-shift mutations c.3855dupC (p.Met1286HisfsTer18) and c.4141delA (p.Arg1381GlyfsTer38) detected in sporadic cases and one previously reported nonsense mutation (c.1927C>T/p.Arg643Ter) in a familial case. Of note, GLI3 mutations were exclusively detected in patients with bilateral polydactyly affecting both hands and feet. Three out of five (60%) probands with bilateral polydactyly on both hands and feet carried pathogenic mutations in GLI3. Our study demonstrated the role of GLI3 in a significant fraction of patients with non-syndromic bilateral polydactyly affecting both hands and feet. SN - 1873-3492 UR - https://www.unboundmedicine.com/medline/citation/24667698/Novel_frame_shift_mutations_of_GLI3_gene_in_non_syndromic_postaxial_polydactyly_patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-8981(14)00120-X DB - PRIME DP - Unbound Medicine ER -