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Novel Identification of a Four-base-pair Deletion Mutation in PITX2 in a Rieger Syndrome Family

¹ Department of Prosthodontics, School of Stomatology, Peking University, 22 Zhong Guan Cun Nan Da Jie, Beijing 100081, People’s Republic of China; and
² Department of Immunology, School of Basic Medicine, Peking University Health Science Center, and Peking University Center for Human Disease Genomics, 38 Xue Yuan Road, Beijing, 100083, People’s Republic of China;

View larger version (91K): [in a new window]   Figure 1. Characterization of the Chinese family affected with Rieger syndrome. (A) Pedigree analysis by inspection reveals autosomal-dominant inheritance. Darkened symbols indicate affected; clear symbols indicate unaffected. Peripheral blood samples were not available for members marked with *. An arrow indicates the proband. (B) Panoramic radiograph of individual III:4 depicts the typical pattern of congenitally missing teeth in the family. The cross indicates the lack of permanent teeth.

View larger version (146K): [in a new window]   Figure 2. Analysis of the PITX2 gene. (A) Genomic structure of the PITX2 gene. The numbered boxes represent the exons. The translation start (ATG) and stop (TAG) codons are indicated. The black box represents the homeobox. The arrows indicate the amplification primers used for mutation screening. The black triangle shows the position of the four-base-pair deletion in this report. (B) SSCP analysis was used to screen for mutations in PITX2 in this family. Arrows indicate aberrantly migrating PCR products of each patient of the family. (C) Sequence analysis of PCR products of exon 5. Direct sequencing of the PCR product in individual III:4 shows overlapping peaks after nucleotide 716 of the cDNA. The subclone sequencing shows the deletion of ACTT, indicated with an arrow.