RGD Reference Report - A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex. - Rat Genome Database

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A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.

Authors: Volodarsky, Michael  Langer, Yshaia  Birk, Ohad S 
Citation: Volodarsky M, etal., BMC Med Genet. 2014 Sep 30;15:110. doi: 10.1186/s12881-014-0110-9.
RGD ID: 12738225
Pubmed: PMID:25267529   (View Abstract at PubMed)
PMCID: PMC4256830   (View Article at PubMed Central)
DOI: DOI:10.1186/s12881-014-0110-9   (Journal Full-text)


BACKGROUND: Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. Genotype-phenotype correlation studies of GLI3 mutations suggest a model by which mutations in the zinc-finger domain (ZFD) of GLI3 likely lead to syndromic polydactyly. Here we describe a rare case of autosomal dominant heterozygous missense mutation in the ZFD of GLI3 leading to a variable polydactyly-syndactyly complex.
CASE PRESENTATION: A large Jewish Moroccan family presented with apparently autosomal dominant heredity of bilateral thumb polydactyly in hands and feet combined with post-axial polydactyly type B or type A. Syndactyly was evident in most patients' hands and feet. Apart from head circumference beyond 90th percentile in some of the affected individuals, none had craniofacial dysmorphism. A novel GLI3 c.1802A >¿G (p.His601Arg) mutation was found in all affected individuals.
CONCLUSION: We demonstrate that a mutation in the ZFD domain of GLI3 leads to phenotypic variability, including an isolated limb phenotype. Thus, the variability in phenotypes caused by mutations in this master developmental regulator is more profound than has been previously suggested.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
polydactyly  IAGP 12738225DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)RGD 
polydactyly  ISOGLI3 (Homo sapiens)12738225; 12738225DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)RGD 
syndactyly  IAGP 12738225DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)RGD 
syndactyly  ISOGLI3 (Homo sapiens)12738225; 12738225DNA:missense mutation:exon:p.H601R (c.1802A>G) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gli3  (GLI family zinc finger 3)

Genes (Mus musculus)
Gli3  (GLI-Kruppel family member GLI3)

Genes (Homo sapiens)
GLI3  (GLI family zinc finger 3)


Additional Information