title: Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
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.
authors.affiliation: Department of Pediatric Gastroenterology, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Iran.
authors.forename: Mehri Najafi
authors.initials: MN
authors.lastname: Sani
authors.forename: Mozhgan
authors.initials: M
authors.lastname: Sabbaghian
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Mahjoob
authors.forename: Angelo B
authors.initials: AB
authors.lastname: Cefalù
authors.forename: Maurizio R
authors.initials: MR
authors.lastname: Averna
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000012:Abetalipoproteinemia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D004386:Duodenum / Q000473:pathology; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008055:Lipids / Q000097:blood; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D008055:Lipids; C106092:microsomal triglyceride transfer protein