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GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Congenit Anom (Kyoto). 2016 Mar; 56(2):94-7.CA

Abstract

The GLI3 protein is a zinc finger transcription factor, expressed early in development. The GLI3 gene exhibits allelic heterogeneity as mutations in this gene are associated with several developmental syndromic and non-syndromic polydactyly. The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G > A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP). Both nonsense truncation mutations; p.R792X (GCPS) and p.E1478X (PAP) introduce a premature stop codon leading to loss of C-terminal domains.

Authors+Show Affiliations

Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi, India.Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi, India.Department of Plastic Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.G S Memorial Plastic Surgery Hospital & Trauma Center, Varanasi, India.Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi, India.

Pub Type(s)

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

Language

eng

PubMed ID

26508445

Citation

Patel, Rashmi, et al. "GLI3 Mutations in Syndromic and Non-syndromic Polydactyly in Two Indian Families." Congenital Anomalies, vol. 56, no. 2, 2016, pp. 94-7.
Patel R, Singh CB, Bhattacharya V, et al. GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. Congenit Anom (Kyoto). 2016;56(2):94-7.
Patel, R., Singh, C. B., Bhattacharya, V., Singh, S. K., & Ali, A. (2016). GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. Congenital Anomalies, 56(2), 94-7. https://doi.org/10.1111/cga.12139
Patel R, et al. GLI3 Mutations in Syndromic and Non-syndromic Polydactyly in Two Indian Families. Congenit Anom (Kyoto). 2016;56(2):94-7. PubMed PMID: 26508445.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. AU - Patel,Rashmi, AU - Singh,Chandra Bhan, AU - Bhattacharya,Visweswar, AU - Singh,Subodh Kumar, AU - Ali,Akhtar, PY - 2015/08/10/received PY - 2015/10/16/accepted PY - 2015/10/29/entrez PY - 2015/10/29/pubmed PY - 2016/12/15/medline KW - Greig Cephalopolysyndactyly Syndrome KW - India KW - limb defects KW - mutation KW - polydactyly SP - 94 EP - 7 JF - Congenital anomalies JO - Congenit Anom (Kyoto) VL - 56 IS - 2 N2 - The GLI3 protein is a zinc finger transcription factor, expressed early in development. The GLI3 gene exhibits allelic heterogeneity as mutations in this gene are associated with several developmental syndromic and non-syndromic polydactyly. The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G > A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP). Both nonsense truncation mutations; p.R792X (GCPS) and p.E1478X (PAP) introduce a premature stop codon leading to loss of C-terminal domains. SN - 1741-4520 UR - https://www.unboundmedicine.com/medline/citation/26508445/GLI3_mutations_in_syndromic_and_non_syndromic_polydactyly_in_two_Indian_families_ L2 - https://doi.org/10.1111/cga.12139 DB - PRIME DP - Unbound Medicine ER -