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Hypotrichosis With Juvenile Macular Dystrophy: Combination Of Whole-Genome Sequencing And Genome-Wide Homozygosity Mapping Identifies A Large Deletion In Cdh3 Initially Undetected By Whole-Exome Sequencing-A Lesson From Next-Generation Sequencing., Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, Soheila Sotudeh, Meisam Sargazi, Sirous Zeinali, Jouni Uitto
Hypotrichosis With Juvenile Macular Dystrophy: Combination Of Whole-Genome Sequencing And Genome-Wide Homozygosity Mapping Identifies A Large Deletion In Cdh3 Initially Undetected By Whole-Exome Sequencing-A Lesson From Next-Generation Sequencing., Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, Soheila Sotudeh, Meisam Sargazi, Sirous Zeinali, Jouni Uitto
Department of Dermatology and Cutaneous Biology Faculty Papers
BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder characterized by abnormal growth of scalp hair and juvenile macular degeneration leading to blindness. We have explored the genetic basis of HJMD in a large consanguineous family with 12 affected patients, 1-76 years of age, with characteristic phenotypes.
METHODS: We first applied genome-wide homozygosity mapping to 10 affected individuals for linkage analysis to identify the genomic region of the defective gene. All affected individuals shared a 7.2 Mb region of homozygosity on chromosome 16q21-22.3, which harbored 298 genes, including CDH3, previously associated with HJMD. However, whole-exome sequencing (WES) …