H syndrome with a novel homozygousSLC29A3mutation in two sisters


Demir D., Karabay E. A. , Sozeri B., Gursoy F., Dogan Ö. , Topaktas E., ...More

PEDIATRIC DERMATOLOGY, vol.37, no.6, pp.1135-1138, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.1111/pde.14322
  • Title of Journal : PEDIATRIC DERMATOLOGY
  • Page Numbers: pp.1135-1138

Abstract

H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We report a novel homozygous missense mutation, c.416T > C p.(Leu139Pro), in theSLC29A3(NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.