Abstract
Due to the variability in clinical phenotypes, it is difficult to classify sub-types simply by clinical features; therefore, molecular and genetic analyses are the most reliable methods for confirming diagnosis, carrier screening, and pre-natal diagnosis. [4] A total of 12 unrelated patients with OCA were selected for this study who had only one allelic point mutation detectable by Sanger sequencing or NGS in either the tyrosinase (TYR) or oculocutaneous albinism II (OCA2) gene. All mutations were graded as pathogenic variations according to the standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics,[5] and two of these were de novo mutations [Table 1].Table 1 Genotypes of the 12 patients with oculocutaneous albinism.
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1 Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China; Shunyi Women and Children's Hospital of Beijing Children's Hospital, Beijing 101300, China
2 Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
3 Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
4 Fulgent Technologies Incorporated, Shanghai 201404, China
5 Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
6 Shunyi Women and Children's Hospital of Beijing Children's Hospital, Beijing 101300, China; Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China