MYH9-related Disorder in a Family: Autosomal Dominant Epstein Giant Platelet Syndrome.
- Author:
Hee Jo BACK
1
;
Hoon KOOK
;
Hyung Suck BYUN
;
Eun Song SONG
;
So Youn KIM
;
Joon Sun LEE
;
Eun Kyoung JO
;
Ho Song NAM
;
Tai Ju HWANG
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. hoonkook@chonnam.ac.kr
- Publication Type:Case Report
- Keywords:
MYH9-related disorder;
Macrothrombocytopenia;
Epstein syndrome
- MeSH:
Bernard-Soulier Syndrome*;
Child, Preschool;
Fathers;
Female;
Hearing Loss;
Humans;
Kidney Failure, Chronic;
Korea;
Leukocytes;
Microscopy, Electron;
Nonmuscle Myosin Type IIA
- From:Korean Journal of Pediatric Hematology-Oncology
2003;10(1):99-104
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The term MYH9-related disorders indicates a group of autosomal dominant illnesses, formerly known as May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome, caused by mutations of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA). We experienced a family with macrothrombocytopenia without leukocyte inclusion. A 5-year-old girl was found to have macrothrombocytopenia incidentally. Her father also had macrothromtocytopenia, but had been suffering from hearing loss and chronic renal failure. Meticulous search by light and electron microscopy failed to detect leukocyte inclusions. To our knowledge, these cases seem to be the first description of autosomal dominant Epstein giant platelet syndrome in Korea.
