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

Gunduz M., Ozaydin E., Atar M. B., Koc N., TUNA KIRSAÇLIOĞLU C., Kose G., ...Daha Fazla

INDIAN JOURNAL OF GASTROENTEROLOGY, cilt.35, sa.3, ss.236-241, 2016 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 3
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1007/s12664-016-0654-z
  • Dergi Adı: INDIAN JOURNAL OF GASTROENTEROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.236-241
  • Anahtar Kelimeler: Abetalipoproteinemia, Developmental delay, Hepatic steatosis, Microsomal triglyceride transfer protein, Turkish, VITAMIN-E, MISSENSE MUTATION, ABETALIPOPROTEINEMIA, HYPOBETALIPOPROTEINEMIA, MTTP
  • Ankara Üniversitesi Adresli: Evet

Özet

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.