Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up

• DOI: 10.1007/s12664-016-0654-z
• Publication Date: 2016-05-10T01:40:45Z
• Authors: Mehmet Gündüz; Eda Özaydın; Müge Büyüktaşlı Atar; Nevra Koç; Ceyda Kırsaçlıoğlu; Gülşen Köse; Angelo Baldassare...; Maurizio Averna; Patrizia Tarugi
• Keywords: Male; Abetalipoproteinemia; Developmental delay; Hepatic steatosis; Microsomal triglyceride transfer protein; Turkish; Gastroenterology; Heterozygote; AbetalipoproteinemiaDevelopmental delayHepatic steatosisMicrosomal triglyceride transfer proteinTurkish; Turkey; Developmental Disabilities; Infant; Abetalipoproteinemia; Introns; 3. Good health; Fatty Liver; 03 medical and health sciences; 0302 clinical medicine; Mutation; Humans; Female; Carrier Proteins; Genetic Association Studies; Follow-Up Studies

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.