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The H syndrome is caused by mutations in the nucleoside transporter hENT3.


ABSTRACT: The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three mutations were found in 11 families of Arab and Bulgarian origin. The finding of several different mutations in a small geographic region implies that the H syndrome might be rather common. The identification of mutations in the SLC29A3 gene in patients with a mild clinical phenotype suggests that this is a largely underdiagnosed condition and strongly suggests that even oligosymptomatic individuals might have the disorder.

SUBMITTER: Molho-Pessach V 

PROVIDER: S-EPMC2561939 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature

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The H syndrome is caused by mutations in the nucleoside transporter hENT3.

Molho-Pessach Vered V   Lerer Israela I   Abeliovich Dvorah D   Agha Ziad Z   Abu Libdeh Abdulasalam A   Broshtilova Valentina V   Elpeleg Orly O   Zlotogorski Abraham A  

American journal of human genetics 20081001 4


The H syndrome is a recently reported autosomal-recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature, hallux valgus, and fixed flexion contractures of the toe joints and the proximal interphalangeal joints. Homozygosity mapping in five consanguineous families resulted in the identification of mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Three  ...[more]

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