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Background  Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcription factor genes  PITX2  and  FOXC1  have been identified within ARS patients, accounting for 40 to 70% of cases. Our purpose is to describe clinical and genetic findings in a Chinese family with ARS.    Methods  An ARS family with three affected members was recruited. The patients underwent a series of complete ophthalmologic examinations, general physical examination and dental radiography. DNA samples of proband II-1 were used for targeted exome sequencing of the  FOXC1  and  PITX2  genes. Sanger sequencing was used to validate the variation in  PITX2 . Quantitative real-time PCR was carried out to detect the expression of  PITX2  in patients and normal controls.    Results  All affected members showed iris atrophy, corectopia, shallow anterior chamber, complete or partial angle closure, and advanced glaucoma. In addition, they revealed systemic anomalies, including microdontia, hypodontia, and redundant periumbilical skin. A novel heterozygous frameshift variation, c.515delA, in  PITX2  was found in the proband, which might lead to a truncated PITX2 protein (p.Gln172ArgfsX36). Sanger sequencing validated that the variation completely cosegregated with the ARS phenotype among this family, but was absent in 100 unrelated controls. Quantitative real-time PCR analysis revealed that the mRNA expression of  PITX2  was significantly decreased in patients compared with that in unrelated normal controls.    Conclusions   PITX2  c.515delA (p.Gln172ArgfsX36) was the genetic etiology of our pedigree. The mutation led to decreased  PITX2  gene expression and a truncated mRNA transcript.

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing