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The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3  Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam.

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Presentation on theme: "The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3  Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam."— Presentation transcript:

1 The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 
Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski  The American Journal of Human Genetics  Volume 83, Issue 4, Pages (October 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees and Clinical Findings of Four Novel Families with H Syndrome and of a Previously Reported Bulgarian Family Affected individuals are marked by gray symbols. Pedigrees for families G–K are shown at left. (A) Hyperpigmentation of inner thighs in patient GII-3. (B) More diffuse and extensive hyperpigmentation in patient KII-1. (C) Fixed flexion contractures of proximal interphalangeal joints in patient HII-2. (D) Hallux valgus and fixed flexion contractures of toe joints in patient III-6. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Haplotype Analysis Performed in Six Families with H Syndrome
Affected individuals are marked by gray symbols. The disease-associated haplotypes in the linked interval on chromosome 10q21.3–q22.1 are shown by vertical bars (red and green) in families A–F. Alleles excluded by recombination events are marked in pink. The physical locations of the polymorphic microsatellites are given near the haplotype for individual AI-2. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Mutations c.1279G > A, c.1309G > A, and c.1045delC in the SLC29A3 Gene (A) Conservation among species of amino acid positions affected by G427S and G437R missense mutations. The mutated amino acids are marked by blue and red, respectively. (B) The single base-pair substitution mutations are shown (vertical arrow) in DNA samples of patients CII-2 (c.1309G > A), BII-3 (c.1279G > A), and AII-8 (c.1309G > A; c.1279G > A). The wild-type is shown in the upper panel. (C) The c.1045delC mutation in patient JII-1 is shown in the lower panel, and the wild-type is shown in the upper panel. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

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