RGD Reference Report - A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. - Rat Genome Database

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

Authors: Semina, EV  Ferrell, RE  Mintz-Hittner, HA  Bitoun, P  Alward, WL  Reiter, RS  Funkhauser, C  Daack-Hirsch, S  Murray, JC 
Citation: Semina EV, etal., Nat Genet 1998 Jun;19(2):167-70.
RGD ID: 737764
Pubmed: PMID:9620774   (View Abstract at PubMed)
DOI: DOI:10.1038/527   (Journal Full-text)

We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homologue of the mouse Pitx3 gene and is a member of the RIEG/PITX homeobox gene family. The protein encoded by PITX3 shows 99% amino-acid identity to the mouse protein, with 100% identity in the homeodomain and approximately 70% overall identity to other members of this family. We mapped the human PITX3 gene to 10q25 using a radiation-hybrid panel. A collection of 80 DNA samples from individuals with various eye anomalies was screened for mutations in the PITX3 gene. We identified two mutations in independent patients. A 17-bp insertion in the 3'-end of the coding sequence, resulting in a frame shift, occurred in a patient with ASMD and cataracts, and a G-->A substitution, changing a codon for serine into a codon for asparagine, in the 5'-end of the gene occurred in a patient with congenital cataracts. Both mutations cosegregate with the disease phenotype in families, and neither were found in up to 300 control individuals studied. Further expression analysis of Pitx3 in the mouse supports a unique role in early ocular development, with later expression extending to the midbrain, tongue, incisors, sternum, vertebrae and limbs. These data strongly suggest a role for PITX3 in ASMD and cataracts and provide new evidence of the contribution of the RIEG/PITX gene family to the developmental program underpinning normal eye formation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cataract 9 multiple types  IAGP 737764DNA:missense mutation more ...RGD 
cataract 9 multiple types  ISOPITX3 (Homo sapiens)737764; 737764DNA:missense mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pitx3  (paired-like homeodomain 3)

Genes (Mus musculus)
Pitx3  (paired-like homeodomain transcription factor 3)

Genes (Homo sapiens)
PITX3  (paired like homeodomain 3)


Additional Information