Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature

KÖSE E., BESCİ Ö., Gudeloglu E., Suncak S., Oymak Y., Ozen S., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.11, ss.1487-1499, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 33 Sayı: 11
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2020-0096
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1487-1499
  • Anahtar Kelimeler: homocysteine, hypogammaglobulinemia, pancytopenia, TCN2 gene, vitamin B12, MUTATIONS
  • Ankara Üniversitesi Adresli: Evet

Özet

Objectives: Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and agammaglobulinemia. Herein, we present TC deficiency diagnosed in two cases (twin siblings) with a novel variant in the TCN2 gene.