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  • Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy

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Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy
  1. Vilavun Puangsricharern1,2,
  2. Patra Yeetong3,
  3. Chonthicha Charumalai1,
  4. Kanya Suphapeetiporn4,5,
  5. Vorasuk Shotelersuk4,5
  1. 1 Faculty of Medicine, Department of Ophthalmology, Chulalongkorn University, Bangkok, Thailand
  2. 2Center of Excellence for Cornea and Limbal Stem Cell Transplantation, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand
  3. 3 Faculty of Science, Department of Botany, Chulalongkorn University, Bangkok, Thailand
  4. 4 Faculty of Medicine, Department of Pediatrics, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, Thailand
  5. 5Center of Excellence for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand
  1. Correspondence to Professor Kanya Suphapeetiporn, Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; kanya.su{at}chula.ac.th

https://doi.org/10.1136/bjophthalmol-2014-305584

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    Introduction

    Congenital hereditary endothelial dystrophy (CHED) is an inherited disorder of the corneal endothelium characterised by bilateral non-inflammatory corneal clouding ranging from a diffuse haze to a ground-glass appearance. CHED can be inherited in an autosomal dominant (CHED1) or recessive (CHED2) manner. CHED2 usually presents at birth or early infancy. Bilateral corneal clouding can lead to visual impairment often accompanied by nystagmus in CHED2 patients requiring corneal transplantation.1

    Mutations in the solute carrier family 4 member 11 (SLC4A11) gene have been identified in most patients with CHED2. With PCR sequencing of the entire coding and putative promoter regions of SLC4A11, there were, however, some clinically confirmed CHED2 patients with undetected SLC4A11 mutations.2

    Case description

    Three affected siblings with CHED2 from a non-consanguineous Thai family were seen at the age of 7, 17 and 20 years, respectively. A diagnosis of CHED2 was made by clinical features, histopathological and confocal microscopic findings. All had corneal haze since birth. Nystagmus was present in the 20-year-old brother and the 7-year-old sister. None had sensorineural hearing loss. Both parents had clear corneas and denied a family history of corneal disorders.

    To identify the genetic defects, we first performed PCR sequencing covering the entire coding region of SLC4A11. A novel c.778A>G mutation resulting …

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    Footnotes

    • VP and PY contributed equally.

    • Contributors VP collected the data, helped with interpretation of histological data and drafted the manuscript. PY performed molecular studies, analysed the data and drafted the manuscript. CC collected the data and helped with analysis of the images. KS and VS designed the study, undertook data analysis and interpretation and wrote the manuscript.

    • Funding This work was supported by the Ratchadapiseksomphot Endowment Fund of Chulalongkorn University (RES560530177-HR) and Thailand Research Fund.

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval The institutional review board of the Faculty of Medicine of Chulalongkorn University.

    • Provenance and peer review Not commissioned; externally peer reviewed.