A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome.

Riachi M., Bas F., Darendeliler F. F., Hussain K.

Pediatric diabetes, cilt.20, sa.4, ss.474-481, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 4
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1111/pedi.12839
  • Dergi Adı: Pediatric diabetes
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.474-481
  • Anahtar Kelimeler: 3 ' untranslated region (3 ' UTR), diabetes mellitus (DM), hyperpigmentation, messenger RNA (mRNA), PHID syndrome, NUCLEOSIDE TRANSPORTER FAMILY, H SYNDROME, IDENTIFICATION, RNA
  • İstanbul Üniversitesi Adresli: Evet

Özet

BackgroundPigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is one of the rare H syndrome diseases mainly characterized by hyperpigmentation, hypertrichosis, sensorineural hearing loss, cardiac complications, developmental delay, and diabetes mellitus (DM). Mutations in the coding regions of the SLC29A3 gene that encodes for an equilibrative nucleoside transporter (ENT3) have been reported to cause the phenotypic spectrum of the H syndrome. Disease-causing mutations in the untranslated regions (UTRs) of the SLC29A3 gene have not been previously described in the literature. The aim of the study is to describe and assess the pathogenicity of a novel 3'UTR mutation in the SLC29A3 gene associated with the PHID phenotype in two Turkish patients.