A Case of H Syndrome With a Novel Mutation in Slc29a3

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

Show Affiliations

1. Growth and development research center, Tehran university of medical sciences, Tehran, Iran
2. Metabolic disorders research center, Endocrinology and metabolism molecular -cellular sciences institute, Tehran University of medical sciences, Tehran, Iran
3. Genetics of complex traits, University of Exeter, RILD level3, Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, United Kingdom

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

2. Autoinflammatory Disorders, Translational Autoimmunity: Autoimmune Diseases in Different Organs (2022)

3. Monogenic Auto-Inflammatory Syndromes: A Review of the Literature, Iranian Journal of Allergy# Asthma and Immunology (2016)

4. Multimodality Imaging of Constrictive Pericarditis in H Syndrome, Echocardiography (2021)

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Style	Citing Format
MLA	Heidari S, et al.. "A Case of H Syndrome With a Novel Mutation in Slc29a3." Meta Gene, vol. 21, no. , 2019, pp. -.
APA	Heidari S, Mohsenipour R, Abbasi F, Rabbani A, Sayarifard F, Enayati S, Borhandayani S, Saadati B, Setoodeh A, Yaghootkar H, Amoli MM (2019). A Case of H Syndrome With a Novel Mutation in Slc29a3. Meta Gene, 21(), -.
Chicago	Heidari S, Mohsenipour R, Abbasi F, Rabbani A, Sayarifard F, Enayati S, Borhandayani S, et al.. "A Case of H Syndrome With a Novel Mutation in Slc29a3." Meta Gene 21, no. (2019): -.
Harvard	Heidari S et al. (2019) 'A Case of H Syndrome With a Novel Mutation in Slc29a3', Meta Gene, 21(), pp. -.
Vancouver	Heidari S, Mohsenipour R, Abbasi F, Rabbani A, Sayarifard F, Enayati S, et al.. A Case of H Syndrome With a Novel Mutation in Slc29a3. Meta Gene. 2019;21():-.
BibTex	@article{ author = {Heidari S and Mohsenipour R and Abbasi F and Rabbani A and Sayarifard F and Enayati S and Borhandayani S and Saadati B and Setoodeh A and Yaghootkar H and Amoli MM}, title = {A Case of H Syndrome With a Novel Mutation in Slc29a3}, journal = {Meta Gene}, volume = {21}, number = {}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Heidari S AU - Mohsenipour R AU - Abbasi F AU - Rabbani A AU - Sayarifard F AU - Enayati S AU - Borhandayani S AU - Saadati B AU - Setoodeh A AU - Yaghootkar H AU - Amoli MM TI - A Case of H Syndrome With a Novel Mutation in Slc29a3 JO - Meta Gene VL - 21 IS - SP - EP - PY - 2019 ER -

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