Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family

@inproceedings{Carstens2016NovelMI,
  title={Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family},
  author={Nadia Carstens and Susan Eileen Isabella Williams and Saadiah Goolam and Trevor Robin Carmichael and Ming Sin Cheung and Stine B{\"u}chmann-M{\o}ller and Marc Sultan and Frank Staedtler and Chao Zou and Peter de Swart and Dennis S. Rice and Arnaud Lacoste and Kim Paes and Mich{\`e}le Ramsay},
  booktitle={BMC Medical Genetics},
  year={2016}
}
BackgroundMacular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters.MethodsA multigenerational South African Sotho-speaking family with type I MCD was studied using whole exome sequencing. Variant filtering to identify the MCD… CONTINUE READING
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