RGD Reference Report - A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. - Rat Genome Database

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A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.

Authors: Vitiello, C  D'Adamo, P  Gentile, F  Vingolo, EM  Gasparini, P  Banfi, S 
Citation: Vitiello C, etal., Am J Med Genet A. 2005 Feb 15;133A(1):58-60.
RGD ID: 8662400
Pubmed: PMID:15637728   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.30554   (Journal Full-text)

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant pleiotropic disorder, caused by mutations in the Connexin 43 gene (GJA1) [Paznekas et al. (2003): Am J Hum Genet 72:408-418], which is localized to human chromosome 6q22-q23. Here, we describe the identification of a novel heterozygous missense mutation in the GJA1 gene, (H194P) in an Italian family previously reported to be affected by isolated autosomal dominant microphthalmia [Vingolo et al. (1994): J Med Genet 31:721-725]. Careful clinical re-evaluation revealed that this family shows an atypical form of ODDD, characterized by the predominance of the ocular involvement and by the absence of hand and/or foot syndactyly. The mutation affects an amino acid residue localized in the second extracellular domain of the Cx43 protein and highly conserved across evolution. This finding confirms the highly variable phenotypic expression caused by GJA1 mutations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
oculodentodigital dysplasia  IAGP 8662400DNA:missense mutation: :p.H194P (human)RGD 
oculodentodigital dysplasia  ISOGJA1 (Homo sapiens)8662400; 8662400DNA:missense mutation: :p.H194P (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gja1  (gap junction protein, alpha 1)

Genes (Mus musculus)
Gja1  (gap junction protein, alpha 1)

Genes (Homo sapiens)
GJA1  (gap junction protein alpha 1)


Additional Information