A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.
J Pediatr Hematol Oncol
; 43(1): e7-e10, 2021 01.
Article
en En
| MEDLINE
| ID: mdl-32520844
ABSTRACT
Congenital macrothrombocytopenia is a diverse group of hereditary disorders caused by mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain-A, an important motor protein in hemopoietic cells. Thus, the term MYH9-related disease has been proposed, but the clinicopathologic basis of MYH9 mutations has been poorly investigated. Here, we report a sporadic case of Epstein syndrome, an MYH9 disorder, in a 4-year-old Chinese boy who presented with macrothrombocytopenia. He had no family history of thrombocytopenia, hearing loss, or renal failure. A de novo heterozygous MYH9 mutation, c.287C>T; p. (Ser96Leu), was found in this patient. Genotype-phenotype analysis of all reported mutations suggested a domain-specific relationship between the location of the MYH9 mutation and the penetrance of the nonhematologic characteristics of MYH9-related disorders. Our study highlights the importance of suspecting MYH9-related disease even in cases of chronic macrothrombocytopenia without a family history or extrahematologic symptoms.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trombocitopenia
/
Cadenas Pesadas de Miosina
/
Pérdida Auditiva Sensorineural
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2021
Tipo del documento:
Article