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A Case of H Syndrome With a Novel Mutation in Slc29a3 Publisher



Heidari S1 ; Mohsenipour R1 ; Abbasi F1 ; Rabbani A1 ; Sayarifard F1 ; Enayati S2 ; Borhandayani S2 ; Saadati B1 ; Setoodeh A1 ; Yaghootkar H3 ; Amoli MM2
Authors

Source: Meta Gene Published:2019


Abstract

H syndrome is a hereditary disease transmitted in an autosomal recessive pattern.It consists of two major clusters of cutaneous and systemic manifestations [1,2].The symptoms include short stature, hyperpigmentation of skin, hypertrichosis, deafness, hypogonadism, anomalies of heart, hyperglycemia(insulin dependent diabetes mellitus) and hepatosplenomegaly [1]. H syndrome is the result of mutations in theSLC29A3 gene that can be homozygous or compound heterozygous. The SLC29A3 gene is located on chromosome 10q22 and encodes a transporter protein that causes passive transportation of nucleosides which is critical for several functions such as DNA and RNA repair [3–5]. Several different mutations withinSLC29A3 can cause H syndrome. In this report, we present a 4.5 year old girl diagnosed with H syndrome based on genetic investigation. © 2019
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