title: Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.
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.
authors.affiliation: Division of Pediatric Metabolism and Nutrition, Ministry of Health, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Irfan Bastug St, Ankara, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Gündüz
authors.affiliation: Infancy Service, Ministry of Health, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Irfan Bastug St, Ankara, Turkey.
authors.forename: Eda
authors.initials: E
authors.lastname: Özaydın
authors.affiliation: Kocaeli State Hospital, Turan Güneş Cad. Hastane sokak, 41300, İzmit, Kocaeli, Turkey.
authors.forename: Müge Büyüktaşlı
authors.initials: MB
authors.lastname: Atar
authors.affiliation: Division of Pediatric Metabolism and Nutrition, Ministry of Health, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Irfan Bastug St, Ankara, Turkey. nevrakoc@yahoo.com.
authors.forename: Nevra
authors.initials: N
authors.lastname: Koç
authors.affiliation: Department of Pediatric Gastroenterology and Hepatology, Ministry of Health, Ankara Children's Health and Diseases, Hematology-Oncology Hospital, Irfan Bastug St, Ankara, Turkey.
authors.forename: Ceyda
authors.initials: C
authors.lastname: Kırsaçlıoğlu
authors.affiliation: Department of Pediatric Neurology, Şişli Etfal Education and Research Hospital, İstanbul, Turkey.
authors.forename: Gülşen
authors.initials: G
authors.lastname: Köse
authors.affiliation: Unit of Internal Medicine and Metabolic Diseases and Center for Genetic Dyslipidemias, University of Palermo School of Medicine, Palermo, Italy.
authors.forename: Angelo Baldassare
authors.initials: AB
authors.lastname: Cefalù
authors.affiliation: Unit of Internal Medicine and Metabolic Diseases and Center for Genetic Dyslipidemias, University of Palermo School of Medicine, Palermo, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Averna
authors.affiliation: Department of Biochemistry, University of Modena, Modena, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarugi
mesh_terms: D000012:Abetalipoproteinemia / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005234:Fatty Liver / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation; D014421:Turkey
chemical_list: D002352:Carrier Proteins; C106092:microsomal triglyceride transfer protein
keywords: Abetalipoproteinemia; Developmental delay; Hepatic steatosis; Microsomal triglyceride transfer protein; Turkish