a chinese family with axenfeld-rieger syndrome: report of the clinical and genetic findings

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2017
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Abstract
AIM: To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome (ARS) and characterize the molecular defect in PITX2 in the family. METHODS: Patients presented with typical ARS from a Chinese family were investigated. We performed genome-wide linkage scan and exome sequencing to identify the pathogenic mutations. Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing. Real-time polymerase chain reaction (RT-PCR) and Western blotting were performed to verify the expression of the pathogenic gene. RESULTS: Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A>G substitution at position -11 of 3’ss of exon 5 (IVS5-11A>G) that co-segregated with the disease phenotype was discovered in the family. The PITX2 messenger ribonucleic acid and protein levels were about 50% lower in patients with ARS than in unaffected family members in the family. CONCLUSION: Our findings implicate the first intronic mutation of the PITX2 gene in the pathogenesis of a severe form of ARS in a Chinese family. This study highlights the importance of a systematic search for intronic mutation in ARS cases for which no mutations in the exons of PITX2 have been found.
Reference Key
sun2017internationala Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Da-Peng Sun;Yun-Hai Dai;Xiao-Jing Pan;Tao Shan;Dian-Qiang Wang;Peng Chen
Journal The Classical Review
Year 2017
DOI
10.18240/ijo.2017.06.04
URL
http://www.ijo.cn/en_publish/2017/6/20170604.pdf
Keywords
renewable energy sources exome sequencing linkage analysis marine engineering shipbuilding

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