Molho-Pessach Vered, Lerer Israela, Abeliovich Dvorah, Agha Ziad, Abu Libdeh Abdulasalam, Broshtilova Valentina, Elpeleg Orly, Zlotogorski Abraham
Department of Dermatology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.
Am J Hum Genet. 2008 Oct;83(4):529-34. doi: 10.1016/j.ajhg.2008.09.013.
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.
H综合征是一种最近报道的常染色体隐性疾病，其特征为皮肤色素沉着、多毛症、肝脾肿大、心脏异常、听力丧失、性腺功能减退、身材矮小、拇外翻以及趾关节和近端指间关节的固定屈曲挛缩。对五个近亲家庭进行纯合子定位，结果鉴定出SLC29A3基因发生突变，该基因编码平衡核苷转运体hENT3。在11个阿拉伯和保加利亚血统的家庭中发现了三种突变。在一个小地理区域内发现几种不同的突变意味着H综合征可能相当常见。在临床症状较轻的患者中鉴定出SLC29A3基因的突变表明，这是一种很大程度上未被诊断的疾病，并且强烈提示即使是症状轻微的个体也可能患有该疾病。
