RGD Reference Report - A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. - Rat Genome Database

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A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

Authors: Li, Dandan  Zhu, Qingguo  Lin, Hui  Zhou, Nan  Qi, Yanhua 
Citation: Li D, etal., Mol Vis. 2008;14:2205-10. Epub 2008 Dec 5.
RGD ID: 12910558
Pubmed: PMID:19052653   (View Abstract at PubMed)
PMCID: PMC2592999   (View Article at PubMed Central)


PURPOSE: Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molecular defect in PITX2 in a Chinese family with ARS.
METHODS: Two generations of the family with ARS were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of all coding exons of PITX2 were performed. Exon 5 (region 1) was also sequenced in 100 healthy controls unrelated to the family for comparison.
RESULTS: A novel PITX2 mutation, c.840G>T, was identified in all affected members of the family with ARS that causes an amino acid substitution from tryptophan to cysteine at codon 86.
CONCLUSIONS: We found a novel p.W86C mutation in PITX2 in a Chinese family with ARS. The tryptophan residue at position 86 is strictly conserved in PITX2a proteins from several species and in homeodomain proteins. We suggest that this mutation in PITX2 is the cause of typical ARS in patients. Our results may be useful for better understanding of the spectrum of PITX2 mutations and the role of PITX2 in the development and progression of ARS.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PITX2HumanAxenfeld-Rieger syndrome  IAGP DNA:point mutation:exon:p.W86C (c.840G>T) (human)RGD 
Pitx2RatAxenfeld-Rieger syndrome  ISOPITX2 (Homo sapiens)DNA:point mutation:exon:p.W86C (c.840G>T) (human)RGD 
Pitx2MouseAxenfeld-Rieger syndrome  ISOPITX2 (Homo sapiens)DNA:point mutation:exon:p.W86C (c.840G>T) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pitx2  (paired-like homeodomain 2)

Genes (Mus musculus)
Pitx2  (paired-like homeodomain transcription factor 2)

Genes (Homo sapiens)
PITX2  (paired like homeodomain 2)

Objects referenced in this article
Gene PHOX2B paired like homeobox 2B Homo sapiens
Gene Phox2b paired-like homeobox 2b Mus musculus
Gene Phox2b paired-like homeobox 2b Rattus norvegicus

Additional Information