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

Maurizio Averna, Angelo Baldassare Cefalu', Eda Özaydın, Ceyda Kırsaçlıoğlu, Nevra Koç, Müge Büyüktaşlı Atar, Mehmet Gündüz, Gülşen Köse, Patrizia Tarugi, Mehmet Gündüz

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3 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)236-241
Number of pages6
JournalIndian Journal of Gastroenterology
Volume35
Publication statusPublished - 2016

All Science Journal Classification (ASJC) codes

  • Gastroenterology

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    Averna, M., Cefalu', A. B., Özaydın, E., Kırsaçlıoğlu, C., Koç, N., Atar, M. B., Gündüz, M., Köse, G., Tarugi, P., & Gündüz, M. (2016). Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. Indian Journal of Gastroenterology, 35, 236-241.