H syndrome with a novel homozygous SLC29A3 mutation in two sisters

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 the SLC29A3 (NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.

Keywords: SLC29A3; H syndrome; genodermatosis; hyperpigmentation; hypertrichosis.