6533b7d3fe1ef96bd1261607
RESEARCH PRODUCT
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
Maurizio AvernaAngelo B. CefalùMozhgan SabbaghianNima RezaeiFatemeh MahjoobMehri Najafi Sanisubject
medicine.medical_specialtyHeterozygoteSettore MED/09 - Medicina InternaDuodenumSpecialties of internal medicineInternal medicineRetinitis pigmentosamedicineHumansgeneticsFamily HealthMTP gene mutations.ABLHepatologymedicine.diagnostic_testApoB-containing lipoproteins.business.industryAbetalipoproteinemiaInfantAbetalipoproteinemia.Heterozygote advantageGeneral Medicinemedicine.diseaseLipidsAbetalipoproteinemiaFat malabsorptionHypocholesterolemiaEndocrinologyPhenotypeRC581-951Failure to thriveFemaleHypocholesterolemia.medicine.symptomLipid profilebusinessCarrier Proteinsdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2011-04-01 |