TY - JOUR
T1 - Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up
AU - Cefalu', Angelo Baldassare
AU - Averna, Maurizio
AU - Özaydın, Eda
AU - Kırsaçlıoğlu, Ceyda
AU - Koç, Nevra
AU - Atar, Müge Büyüktaşlı
AU - Atar, Müge Büyüktaşlı
AU - Gündüz, Mehmet
AU - Köse, Gülşen
AU - Tarugi, Patrizia
AU - Gündüz, Mehmet
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
UR - http://hdl.handle.net/10447/183596
UR - http://www.springer.com/medicine/internal/journal/12664
M3 - Article
VL - 35
SP - 236
EP - 241
JO - Indian Journal of Gastroenterology
JF - Indian Journal of Gastroenterology
SN - 0254-8860
ER -