RGD Reference Report - Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. - Rat Genome Database

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Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.

Authors: Fujioka, H  Ariga, T  Horiuchi, K  Otsu, M  Igawa, H  Kawashima, K  Yamamoto, Y  Sugihara, T  Sakiyama, Y 
Citation: Fujioka H, etal., Clin Genet. 2005 May;67(5):429-33.
RGD ID: 12738221
Pubmed: PMID:15811011   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-0004.2005.00431.x   (Journal Full-text)

Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. However, the different phenotypes resulting from GLI3 mutations have not yet been properly defined. We have experienced two types of digital abnormality without other complicating developmental defects; a family with foot PPD-IV with syndactyly of the third and fourth fingers, and four sporadic cases with biphalangeal thumb polydactyly (PPD-I). The genes responsible for syndactyly of the third and fourth fingers (syndactyly type-I) and PPD-I have not yet been identified; we therefore examined the involvement of the GLI3 gene in these subtypes of digital abnormality. We found a non-sense mutation in the GLI3 gene in the family with foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD-I alone. Thus, the phenotype of foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers may result from a GLI3 mutation, whereas the PPD-I phenotype alone is not caused by GLI3 gene defect. These results will help to define the phenotypic spectrum of GLI3 morphopathies, which have been recently proposed.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Preaxial Polydactyly IV  IAGP 12738221DNA:nonsense mutation:exon:p.R290X (C868T) (human)RGD 
Preaxial Polydactyly IV  ISOGLI3 (Homo sapiens)12738221; 12738221DNA:nonsense mutation:exon:p.R290X (C868T) (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