Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
Ann Hepatol
; 10(2): 221-6, 2011.
Article
em En
| MEDLINE
| ID: mdl-21502686
ABSTRACT
Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (c.1586 A > G-H529R). The parents were heterozygotes for the same mutation and interestingly the father showed a lipid profile characterized by a slight reduction of total and LDL-cholesterol plasma levels.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Abetalipoproteinemia
/
Proteínas de Transporte
/
Saúde da Família
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Ann Hepatol
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Irã