两姐妹患伴有新型纯合SLC29A3突变的H综合征。

H syndrome with a novel homozygous SLC29A3 mutation in two sisters.

作者信息

Demir Damla, Aktaş Karabay Ezgi, Sözeri Betül, Gürsoy Fatıma, Akgün Doğan Özlem, Topaktaş Eylem, Zindancı İlkin

机构信息

Department of Dermatology, Health Science University Ümraniye Training and Research Hospital, Istanbul, Turkey.

Department of Dermatology, Bahçeşehir University Faculty of Medicine, Istanbul, Turkey.

出版信息

Pediatr Dermatol. 2020 Nov;37(6):1135-1138. doi: 10.1111/pde.14322. Epub 2020 Aug 10.

DOI:10.1111/pde.14322

PMID:32776596

Abstract

H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We report a novel homozygous missense mutation, c.416T > C p.(Leu139Pro), in the SLC29A3 (NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.

摘要

H综合征（OMIM 602782）是一种最近定义的常染色体隐性遗传性皮肤病。H综合征的皮肤表现包括色素沉着、多毛症和硬结，而听力丧失、心脏异常、肝肿大、性腺功能减退、高血糖（糖尿病）、身高矮小、拇外翻（屈曲挛缩）和血液学异常则是皮肤外异常表现。我们报告了两例患有H综合征且表现出不同表型的姐妹，她们的溶质载体家族29成员3（SLC29A3，NM_001174098.1）基因中存在一种新的纯合错义突变，即c.416T>C p.(Leu139Pro)。