Report of a young girl with MYH9 mutation and review of the literature.
Abstract
MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin
anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively
referred to as MYH9-related disease. We present the case of a girl with MYH9-related
disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing.
We discuss our patient's clinical presentation, now with 12 years of follow-up. We
also discuss management and her possible prognosis given her specific MYH9 mutation.
Type
Journal articleSubject
HumansHearing Loss, Sensorineural
Cerebral Infarction
Nephritis, Hereditary
Thrombocytopenia
Myosin Heavy Chains
Mutation
Child, Preschool
Female
Molecular Motor Proteins
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https://hdl.handle.net/10161/24075Published Version (Please cite this version)
10.1097/mph.0b013e3182678fc9Publication Info
(2012). Report of a young girl with MYH9 mutation and review of the literature. Journal of pediatric hematology/oncology, 34(7). pp. 538-540. 10.1097/mph.0b013e3182678fc9. Retrieved from https://hdl.handle.net/10161/24075.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Michael Bradley Datto
Associate Professor of Pathology
Dr. Datto is an AP/CP/MGP board certified pathologist who specializes in molecular
pathology. He is the Associate Vice President for Duke University Health System Clinical
Laboratories, the Vice Chair for Clinical Pathology and Medical Director for Duke
University Health System Clinical Laboratories. In these roles, he is responsible
for maintaining the standards of the College of American Pathologists and CLIA/CMS
within all Clinical Laboratories at Duke. Speci
Daniel Bryce Landi
Assistant Professor of Pediatrics
Sara Elizabeth Miller
Professor in Pathology
Our laboratory specializes in two areas, infectious diseases, particularlyviral diseases,
and ultrastructure-function relationships. Electronmicroscopy (EM) is the focus of
the investigative techniques and includes preparative methods such as negative staining,
thin sectioning, ultracryomicrotomy and immunolabeling of acrylic and frozen sections.
We are especially interested in methods for diagnosing viral illnesses by EM, and
are involved in developing better, more sensitive and fa
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