MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Pediatr Blood Cancer
; 68(7): e29055, 2021 07.
Article
en En
| MEDLINE
| ID: mdl-33855781
ABSTRACT
The diagnosis of MYH9 disorder is guided by recognizing granulocyte Döhle body-like inclusion bodies and large/giant platelets in the peripheral blood smear. Immunofluorescence study of nonmuscle myosin heavy chain IIA is a sensitive screening method for diagnosis of MYH9 disorder. The diagnosis can then be confirmed by genetic analysis. A total of 67 patients with macrothrombocytopenia were included, of which 11 patients (16%), aged 4 months to 22 years, were ultimately diagnosed with MYH9 disorder. One novel mutation in exon 30 at c.4338T>C (p.F1446A) was detected. This mutation was associated with nonhematologic manifestations presenting in late adolescence with cataracts, hearing loss, and hematuria.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Trombocitopenia
/
Trastornos de las Plaquetas Sanguíneas
/
Cadenas Pesadas de Miosina
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Adult
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Child
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Child, preschool
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Humans
/
Infant
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Tailandia