Peter B. Kang, MD
Chief, Division of Pediatric Neurology
Professor of Pediatrics
Joint Professor of Neurology
Joint Professor of Molecular Genetics and Microbiology
Member, UF Genetics Institute
Member, UF Myology Institute
For contact information please click here.
The Kang Laboratory focuses on the genetics of muscular dystrophy, and the core project involves gene discovery in limb girdle muscular dystrophy and other muscle diseases. The laboratory makes use of exome and genome sequencing technologies, supplemented as needed by linkage analyses and other approaches. Dr. Kang and his collaborators enroll research subjects with undiagnosed muscle diseases for these studies.
Genes identified in the core project are considered for more in-depth studies to understand the disease processes better and to seek potential therapeutic targets. One such gene is MEGF10, which causes a congenital muscle disease with prominent respiratory distress and scoliosis. The laboratory described a family affected by mutations in this gene, and has determined that at least some pathogenic mutations affect tyrosine phosphorylation of the protein product. This gene is expressed in muscle satellite cells, suggesting that manipulations of it or its protein product may have therapeutic implications for muscle disease. Further analyses are ongoing.
- Christine Bruels, PhD
- Dorianmarie Vargas-Franco, PhD
- Rachel Davis
- Raghav Kalra
- Emily McGaughy
- Brandon Lachtman
- McMillan HJ, Gregas M, Darras BT, Kang PB. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. Pediatrics 2011;127:e132-136.
- Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HGW, Nishino I, Beggs AH, Kunkel LM, Kang PB. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 2012;13:115-124.
- Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB. Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS Letters 2013;587:2952-2957.
- Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular Disorders 2013;23:975-980.
- Liew WKM, Powell CA, Sloan SR, Shamberger RC, Weldon CB, Darras BT, Kang PB. Comparison of plasmapheresis and intravenous immunoglobulin as maintenance therapies for juvenile myasthenia gravis. JAMA Neurology 2014;71:575-580.
- Karakis I, Liew W, Darras BT, Jones HR Jr, Kang PB. Referral and diagnostic trends in pediatric electromyography in the molecular era. Muscle and Nerve 2014;50:244-249.
- Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB. Silencing of drpr leads to muscle and brain degeneration in adult Drosophila. American Journal of Pathology 2014;184:2653-2661.
- Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bönnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TSD, Cox JA, Hagen EE, Gronseth G, Griggs RC. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology 2015;84:1369-1378.
- Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, MacArthur DG, Kunkel LM, Kang PB. A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt. Muscle & Nerve 2016;54:690-695.
- Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HGW, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying causative mutations for LGMD in the United States. Journal of Human Genetics 2017;62:243-252.
- Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB. Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. Human Molecular Genetics 2017;26:2984-3000.
- Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological Genomics 2018;50:929-939.
- Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Molecular Genetics & Genomic Medicine 2019;7:e552.
- Draper I, Saha M, Stonebreaker H, Salomon RN, Matin B, Kang PB. The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila. FEBS Letters 2019;593:680-696.
- Saha M, Rizzo SA, Ramanathan M, Hightower RM, Santostefano KE, Terada N, Finkel RS, Berg JS, Chahin N, Pacak CA, Wagner RE, Alexander MS, Draper I, Kang PB. Human Molecular Genetics 2019;epub April 2.