Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene

Vural S., Ertop P., Durmaz C. D., ŞANLI H., HEPER A., KUNDAKCI N., ...More

CYTOGENETIC AND GENOME RESEARCH, vol.151, no.4, pp.186-190, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 151 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1159/000475908
  • Journal Name: CYTOGENETIC AND GENOME RESEARCH
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.186-190
  • Keywords: Homozygous mutation, H syndrome, SLC29A3, VENA-CAVA, MANIFESTATIONS, DISORDER
  • Hacettepe University Affiliated: No

Abstract

H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c. 1339G> A (p. Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome. (C) 2017 S. Karger AG, Basel