Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J
Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Clin Exp Dermatol. 2015 Aug;40(6):636-9. doi: 10.1111/ced.12616. Epub 2015 Mar 7.
Infantile systemic hyalinosis (ISH) is an extremely rare genodermatosis, characterized by thickened skin, joint contractures and subcutaneous nodules. ISH is caused by mutations in the CMG2 gene, which encodes a protein of unknown function. In this report, we describe a patient with ISH, who was a twin born to a consanguineous Iranian couple, and who demonstrated unusual skin findings in addition to the characteristic features of ISH. Mutation analysis disclosed a homozygous deletion mutation, c.1074delT in CMG2, resulting in a frameshift and premature termination codon 50 amino acids downstream of the deletion. This information adds to the recurring nature of this mutation in ISH, with implications for genetic counselling in extended families with a history of this disease.
婴儿全身性透明变性（ISH）是一种极其罕见的遗传性皮肤病，其特征为皮肤增厚、关节挛缩和皮下结节。ISH由CMG2基因突变引起，该基因编码一种功能未知的蛋白质。在本报告中，我们描述了一名ISH患者，该患者是一对近亲结婚的伊朗夫妇所生的双胞胎，除ISH的特征性表现外，还表现出不寻常的皮肤表现。突变分析发现CMG2基因存在纯合缺失突变c.1074delT，导致移码突变，并在缺失下游50个氨基酸处产生过早终止密码子。这一信息进一步证明了该突变在ISH中的复发性，对有该疾病家族史的大家庭的遗传咨询具有重要意义。
