St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
Clin Exp Dermatol. 2012 Aug;37(6):635-8. doi: 10.1111/j.1365-2230.2011.04287.x. Epub 2012 Feb 2.
Infantile systemic hyalinosis (ISH) is a rare autosomal recessive genetic disorder characterized by dermal and subcutaneous fibromatosis, joint contractures and bone deformities. The condition usually presents at birth, resulting in death in infancy. ISH is caused by mutations in the anthrax toxin receptor 2 gene, ANTXR2, also known as CMG2. We report an Indian child with ISH in whom we identified a homozygous acceptor splice site mutation, IVS2-4G>A. In silico analysis of this sequence showed that it changed predicted cryptic splicing, leading to out-of-frame transcripts and little, if any, functional protein. Mutations in the ANTXR2 gene can also cause juvenile hyaline fibromatosis (JHF). Although there are currently no effective treatments for ISH or JHF, identification of pathogenetic mutations in the ANTXR2 gene makes DNA-based prenatal diagnosis feasible for subsequent pregnancies.
婴儿全身性玻璃样变性（ISH）是一种罕见的常染色体隐性遗传疾病，其特征为皮肤和皮下纤维瘤形成、关节挛缩和骨骼畸形。该病通常在出生时即出现，导致婴儿期死亡。ISH 是由炭疽毒素受体 2 基因（ANTXR2），也称 CMG2 突变引起的。我们报告了一例印度患儿，其 ISH 由 ANTXR2 基因的纯合性接受性剪接位点突变 IVS2-4G>A 引起。该序列的计算机分析表明，它改变了预测的隐蔽剪接，导致无义转录本和很少（如果有的话）功能性蛋白。ANTXR2 基因突变也可导致幼年透明纤维瘤病（JHF）。虽然目前尚无 ISH 或 JHF 的有效治疗方法，但 ANTXR2 基因突变的鉴定使基于 DNA 的产前诊断成为可能，适用于后续妊娠。
