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Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome
Author(s) -
Shankar Sukesh Gautam,
Rangarajan Sudha,
Priyadarshini Anuradha,
Swaminathan Adikrishnan,
Sundaram Murugan
Publication year - 2019
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.14075
Subject(s) - genodermatosis , medicine , mutation , genetics , gene , dermatology , biology
H syndrome (OMIM 6027820) is a novel form of histiocytosis affecting multiple organs with peculiar cutaneous manifestations. It is an autosomal recessive genodermatosis caused by pathogenic mutations in SLC29A3 that encodes the human equilibrative nucleoside transporter, hENT3. The cutaneous manifestations can mimic other sclerodermoid conditions. We present a 15‐year‐old boy diagnosed with H syndrome with typical clinical features and homozygosity for a novel pathogenic mutation.