H syndrome with a novel homozygousSLC29A3mutation in two sisters

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

PEDIATRIC DERMATOLOGY, cilt.37, sa.6, ss.1135-1138, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1111/pde.14322
  • Dergi Adı: PEDIATRIC DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1135-1138
  • Anahtar Kelimeler: genodermatosis, H syndrome, hyperpigmentation, hypertrichosis, GENODERMATOSIS, MUTATIONS
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.