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H syndrome with a novel homozygous SLC29A3 mutation in two sisters
Author(s) -
Demir Damla,
Aktaş Karabay Ezgi,
Sözeri Betül,
Gürsoy Fatıma,
Akgün Doğan Özlem,
Topaktaş Eylem,
Zindancı İlkin
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14322
Subject(s) - genodermatosis , medicine , hypertrichosis , missense mutation , short stature , hyperpigmentation , camptodactyly , dermatology , diabetes mellitus , mutation , endocrinology , pediatrics , genetics , surgery , gene , biology
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.