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

Kose E., BESCİ Ö., Gudeloglu E., Suncak S., Oymak Y., Ozen S., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.11, pp.1487-1499, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 33 Issue: 11
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2020-0096
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.1487-1499
  • Keywords: homocysteine, hypogammaglobulinemia, pancytopenia, TCN2 gene, vitamin B12, MUTATIONS
  • Dokuz Eylül University Affiliated: Yes

Abstract

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.