GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families

Congenital Anomalies

Volumn 56, Issue 2, 2016, Pages 94-97

  Patel, Rashmi ^a   Singh, Chandra Bhan ^a   Bhattacharya, Visweswar ^b   Singh, Subodh Kumar ^c   Ali, Akhtar ^a  

^a BANARAS HINDU UNIVERSITY   (India)

^b BANARAS HINDU UNIVERSITY   (India)

^c GS Memorial Plastic Surgery Hospital   (India)

Author keywords

Greig cephalopolysyndactyly syndrome; India; Limb defects; Mutation; Polydactyly

Indexed keywords

TRANSCRIPTION FACTOR GLI3; GLI3 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; NERVE PROTEIN; TRANSCRIPTIONAL ACTIVATOR GLI3;

ADULT; ARTICLE; BODY HEIGHT; BODY WEIGHT; CARBOXY TERMINAL SEQUENCE; CODON; FINGER; FOOT DISEASE; GENE; GENE INSERTION; GENE SEQUENCE; GLI3 GENE; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; HAND DISEASE; HEAD CIRCUMFERENCE; HUMAN; INDIAN; MACROCEPHALY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; OCCIPITOFRONTAL HEAD CIRCUMFERENCE; POLYDACTYLY; POSTAXIAL POLYDACTYLY TYPE A; POSTAXIAL POLYDACTYLY TYPE B; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ABNORMALITIES; ACROCEPHALOSYNDACTYLY; CASE REPORT; CHEMISTRY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS; INDIA; MALE; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME; TOE;

ACROCEPHALOSYNDACTYLIA; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; HUMANS; INDIA; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYDACTYLY; SYNDROME; TOES; ZINC FINGER PROTEIN GLI3;

EID: 84959467180     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/cga.12139     Document Type: Article

References (9)

1. Biesecker LG. 2001. Greig cephalopolysyndactyly syndrome. 2001 [updated 2014 Jun 19]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2. Biesecker LG. 2008. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis 24:10.
3. Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A. 2012. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet 53:415-422.
4. Johnston JJ, Sapp JC, Turner JT etal. 2010. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 31:1142-1154.
5. Krauß S, So J, Hambrock M etal. 2009. Point Mutations in GLI3 Lead to Misregulation of its Subcellular Localization. PLoSONE 4:e7471.
6. Motoyoma J. 2006. Essential roles of Gli3 and sonic hedgehog in pattern formation and developmental anomalies caused by their dysfunction. Congenit Anom 46:123-128.
7. Patel R, Tripathi FM, Singh SK, Rani A, Bhattacharya V, Ali A. 2014. A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. Meta Gene 2:880-887.
8. Radhakrishna U, Bornholdt D, Scott HS etal. 1999. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 65:645-655.
9. Sethi SK, Goyal D, Khalil S, Yadav DK. 2013. Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype. Eur J Pediatr 172:1131-1135.