GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
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.
Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi, India.
Rashmi
R
Patel
Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi, India.
Chandra Bhan
CB
Singh
Department of Plastic Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Visweswar
V
Bhattacharya
G S Memorial Plastic Surgery Hospital & Trauma Center, Varanasi, India.
Subodh Kumar
SK
Singh
Centre for Genetic Disorders, Faculty of Science, Banaras Hindu University, Varanasi, India.
Akhtar
http://orcid.org/0000-0003-2444-8400
A
Ali
D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007194:India; D051741:Kruppel-Like Transcription Factors / Q000737:chemistry / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017689:Polydactyly / Q000175:diagnosis* / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D000074290:Zinc Finger Protein Gli3
C065683:GLI3 protein, human; D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins; D000074290:Zinc Finger Protein Gli3
Greig Cephalopolysyndactyly Syndrome; India; limb defects; mutation; polydactyly