Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
Gene
; 519(2): 295-7, 2013 May 01.
Article
en En
| MEDLINE
| ID: mdl-23454484
ABSTRACT
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A clinical and molecular investigation was performed in four patients from three families and their healthy family members. All had the typical diagnostic criteria. The onset of hearing loss in three patients was at birth and one patient also had a stroke and seizure disorder. Thiamine treatment effectively corrected the anemia in all of our patients but did not prevent hearing loss. Diabetes was improved in one patient who presented at the age of 8months with anemia and diabetes after 2months of starting thiamine. The coding regions of SLC19A2 were sequenced in all patients. The identified mutation was tested in all members of the families. Molecular analyses identified a homozygous nonsense mutation c.697C>T (p.Gln233*) as the cause of the disease in all families. This mutation was previously reported in a Turkish patient with TRMA and is likely to be a founder mutation in the Persian population.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
Problema de salud:
2_muertes_prematuras_enfermedades_notrasmisibles
Asunto principal:
Proteínas de Transporte de Membrana
/
Codón sin Sentido
/
Diabetes Mellitus
/
Pérdida Auditiva Sensorineural
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Anemia Megaloblástica
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Female
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Humans
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Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Gene
Año:
2013
Tipo del documento:
Article
País de afiliación:
Irán