Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

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 manifes...

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Bibliographic Details
Published in:Pediatric dermatology 2020-03, Vol.37 (2), p.333-336
Main Authors: Shankar, Sukesh Gautam, Rangarajan, Sudha, Priyadarshini, Anuradha, Swaminathan, Adikrishnan, Sundaram, Murugan
Format: Article
Language:English
Subjects:
Adolescent
Case reports
Contracture - diagnosis
Contracture - genetics
genodermatoses
Genodermatosis
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
histiocytic disorders
Histiocytosis
Histiocytosis - diagnosis
Histiocytosis - genetics
Homozygote
Humans
Male
Mutation
Mutation - genetics
Nucleoside Transport Proteins - genetics
Nucleoside transporter
Pediatrics
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.14075