File:PMC5111007 MalcolmsonMCS001073 F3.png

License

Attribution 4.0 International (CC BY 4.0)

Summary

Author:Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams,Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H. Meisler, Kai Wang, Reid Robison, and Gholson J. Lyon,Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Genetic Counseling Graduate Program, Long Island University (LIU), Utah Foundation for Biomedical Research, Affiliated Genetics, Department of Human Genetics, University of Michigan, Zilkha Neurogenetic Institute, University of Southern California,Department of Psychiatry and Behavioral Sciences, Keck School of Medicine, University of Southern California(Openi/National Library of Medicine) Source:https://openi.nlm.nih.gov/detailedresult?img=PMC5111007_MalcolmsonMCS001073_F3&query=&req=4 Description:MALCOLMSONMCS001073F3: GenomeBrowse output for the mutation in SCN8A (A). The proband has a heterozygous C substitution in Chromosome 12, position 52,093,447 in SCN8A. There are more than 20 reads covering the region, indicating that this is likely a true-positive mutation. None of the other family members appears to have this mutation, categorizing it as de novo. (B) Sanger sequencing for the proband confirms the presence of the mutation, as seen by the reverse (top) and forward (bottom) strands highlighted by the red box.