Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?


Coskunpinar E., Tekin S., Palanduz S., Avci H., Cefle K., Tiryakioglu N. O. , ...More

BEZMIALEM SCIENCE, vol.6, no.2, pp.126-129, 2018 (Peer-Reviewed Journal) identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.14235/bs.2018.1840
  • Journal Name: BEZMIALEM SCIENCE
  • Journal Indexes: Emerging Sources Citation Index, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.126-129
  • Keywords: Hypophosphatemic rickets, hearing loss, ENPP1, mutation

Abstract

Objective: A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome. These findings led us to investigate the genetic alterations associated with familial hypophosphatemia, which revealed an ENPP1 mutation.