June 2015
Volume 56, Issue 7
ARVO Annual Meeting Abstract  |   June 2015
Mutations in the MMRN1 gene are associated with Axenfeld-Rieger syndrome
Author Affiliations & Notes
  • Peng Chen
    Shandong eye institute, Shandong Provincial Key Laboratory of Ophthalmology, Qingdao, China
  • Footnotes
    Commercial Relationships Peng Chen, None
  • Footnotes
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Investigative Ophthalmology & Visual Science June 2015, Vol.56, 2539. doi:
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      Peng Chen; Mutations in the MMRN1 gene are associated with Axenfeld-Rieger syndrome. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):2539.

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      © ARVO (1962-2015); The Authors (2016-present)

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Axenfeld-Rieger syndrome (ARS; OMIM 180500) is an autosomal dominant disease that manifests as anomalies of the anterior segment of the eye and systemic abnormalities. Although mutations of several genes have been shown to cause ARS, in many patients the causative gene has not yet been identified. Our aim was to identify the disease-associated gene in Chinese patients with ARS.


ARS patients from a Chinese four-generation family were enrolled. All the patients were screened by Sanger sequencing with no identified mutations. Genetic variations were screened by a combined strategy of exome sequencing and linkage analysis and then validated using Sanger sequencing.


We sequenced the whole exome of three patients in a Chinese four-generation ARS family and identified a missense mutation, c.1952C>A transition (P651H), in exon 6 of MMRN1. This change is at a highly conserved position, is predicted to have a functional impact, and completely co-segregated with the phenotype. The exome results were validated using linkage analysis. The mutation we identified using exome sequencing was located in the same region (4q21.22-q28.3) as that identified by linkage analysis, which cross-validated MMRN1 as the causative ARS gene in this family. The mutation was absent in 200 normal unaffected individuals of matched geographical ancestry.


Our study showed, for the first time, that mutation in MMRN1 was associated with ARS, warranting further investigations on the pathogenesis of this disorder. The finding illustrates whole-exome sequencing of affected individuals from one family as an effective and cost efficient method for mapping genes of rare Mendelian disorders and the use of linkage analysis and exome sequencing for further improving efficiency.


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