Article
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges.
American journal of medical genetics. Part A - 1 Oct 2021
Walker Susan, Lamoureux Sylvia, Khan Tayyaba, Joynt Alyssa C M, Bradley Melissa, Branson Helen M, Carter Melissa T, Hayeems Robin Z, Jagiello Lukasz, Marshall Christian R, Meyn M Stephen, Miller Steven P, Wilson Diane, Scherer Stephen W, Blaser Susan, Mireskandari Kamiar, Costain Gregory
Abstract excerpt
Variants in JAM3 have been reported in four families manifesting a severe autosomal recessive disorder characterized by hemorrhagic destruction of the brain, subependymal calcification, and cataracts. We describe a 7-year-old male with a similar presentation found by research-based quad genome sequencing to have two novel splicing variants in trans in JAM3, including one deep intronic variant (NM_032801.4:...
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