6533b834fe1ef96bd129d803
RESEARCH PRODUCT
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.
Maurizio AvernaEda ÖZaydinGülşen KösePatrizia TarugiCeyda Tuna KırsaçlıoğluMehmet GündüzNevra KoçAngelo B. CefalùMüge Atarsubject
Male0301 basic medicineHeterozygotemedicine.medical_specialtySettore MED/09 - Medicina InternaTurkeyDevelopmental delayDevelopmental DisabilitiesTurkish030204 cardiovascular system & hematologyHepatic steatosimedicine.disease_causeMicrosomal triglyceride transfer protein03 medical and health sciencesExon0302 clinical medicineInternal medicineHumansMedicineGeneGenetic Association StudiesGeneticsMutationABLbiologyAbetalipoproteinemiaDevelopmental delayHepatic steatosisMicrosomal triglyceride transfer proteinTurkishbusiness.industryIntronGastroenterologyInfantAbetalipoproteinemiaMicrosomal triglyceride transfer proteinmedicine.diseaseIntronsAbetalipoproteinemiaFatty Liver030104 developmental biologyEndocrinologyMutationbiology.proteinFemaleSteatosisCarrier ProteinsbusinessFollow-Up Studiesdescription
Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2016-01-01 |