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A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family.
Clin Chim Acta. 2011 May 12; 412(11-12):1012-7.CC

Abstract

A three-generation Han Chinese family was found with complex digital anomalies including various types of polydactyly and syndactyly of fingers and toes. Some extra digits are composed only of soft tissues while others are complete fingers or toes, making this complex case different from previously reported pedigrees. The digital disease shows an autosomal dominant inheritance model. To locate the causative gene, whole-genome SNP analysis was performed using Illumina 370 K CNV-Quad chips followed by linkage analysis with a self-developed algorithm Haplo2Ped (http://bighapmap.big.ac.cn/software.html). Three candidate regions with the highest signals (LOD scores 2.1070) were identified. In one region from 33,904,914 bp to 45,529,271 bp in chromosome 7, GLI3 was selected for further analysis. PCR sequencing and subsequent clone sequencing revealed a single nucleotide deletion (c.2884delG) in exon 14. This frame shift mutation generated a truncated protein with 40 non-endogenous amino acids in its C-terminal (p.Asp962MetfsX41). GLI3 was previously reported to associate with Greig Cephalopolysyndactyly Syndrome, Pallister-Hall Syndrome, and a few cases of preaxial and postaxial polydactylies. We report for the first time a novel mutation of GLI3 causing various digital abnormalities, including multi symptoms as both polydactyly and syndactyly among affected members but no other body maldevelopments (non-syndromic).

Authors+Show Affiliations

Laboratory in Cancer Genomics and Individualized Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

21320477

Citation

Cheng, Feng, et al. "A Novel Frame-shift Mutation of GLI3 Causes Non-syndromic and Complex Digital Anomalies in a Chinese Family." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 412, no. 11-12, 2011, pp. 1012-7.
Cheng F, Ke X, Lv M, et al. A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family. Clin Chim Acta. 2011;412(11-12):1012-7.
Cheng, F., Ke, X., Lv, M., Zhang, F., Li, C., Zhang, X., Zhang, Y., Zhao, X., Wang, X., Liu, B., Han, J., Li, Y., Zeng, C., & Li, S. (2011). A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family. Clinica Chimica Acta; International Journal of Clinical Chemistry, 412(11-12), 1012-7. https://doi.org/10.1016/j.cca.2011.02.007
Cheng F, et al. A Novel Frame-shift Mutation of GLI3 Causes Non-syndromic and Complex Digital Anomalies in a Chinese Family. Clin Chim Acta. 2011 May 12;412(11-12):1012-7. PubMed PMID: 21320477.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family. AU - Cheng,Feng, AU - Ke,Xin, AU - Lv,Ming, AU - Zhang,Fan, AU - Li,Chaohua, AU - Zhang,Xianglong, AU - Zhang,Yinan, AU - Zhao,Xiangjun, AU - Wang,Xingwu, AU - Liu,Bo, AU - Han,Jinxiang, AU - Li,Yan, AU - Zeng,Changqing, AU - Li,Sheng, Y1 - 2011/02/12/ PY - 2010/12/02/received PY - 2011/02/05/revised PY - 2011/02/07/accepted PY - 2011/2/16/entrez PY - 2011/2/16/pubmed PY - 2012/8/9/medline SP - 1012 EP - 7 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin Chim Acta VL - 412 IS - 11-12 N2 - A three-generation Han Chinese family was found with complex digital anomalies including various types of polydactyly and syndactyly of fingers and toes. Some extra digits are composed only of soft tissues while others are complete fingers or toes, making this complex case different from previously reported pedigrees. The digital disease shows an autosomal dominant inheritance model. To locate the causative gene, whole-genome SNP analysis was performed using Illumina 370 K CNV-Quad chips followed by linkage analysis with a self-developed algorithm Haplo2Ped (http://bighapmap.big.ac.cn/software.html). Three candidate regions with the highest signals (LOD scores 2.1070) were identified. In one region from 33,904,914 bp to 45,529,271 bp in chromosome 7, GLI3 was selected for further analysis. PCR sequencing and subsequent clone sequencing revealed a single nucleotide deletion (c.2884delG) in exon 14. This frame shift mutation generated a truncated protein with 40 non-endogenous amino acids in its C-terminal (p.Asp962MetfsX41). GLI3 was previously reported to associate with Greig Cephalopolysyndactyly Syndrome, Pallister-Hall Syndrome, and a few cases of preaxial and postaxial polydactylies. We report for the first time a novel mutation of GLI3 causing various digital abnormalities, including multi symptoms as both polydactyly and syndactyly among affected members but no other body maldevelopments (non-syndromic). SN - 1873-3492 UR - https://www.unboundmedicine.com/medline/citation/21320477/A_novel_frame_shift_mutation_of_GLI3_causes_non_syndromic_and_complex_digital_anomalies_in_a_Chinese_family_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-8981(11)00098-2 DB - PRIME DP - Unbound Medicine ER -