Format

Send to

Choose Destination
Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013.

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

Author information

1
Department of Dermatology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.

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.

PMID:
18940313
PMCID:
PMC2561939
DOI:
10.1016/j.ajhg.2008.09.013
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center