PDF(Pubmed)
Abstract：
Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB-golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. The encoded protein has a function in the secretory pathway, was identified by terminal kinase-like protein, and thus, it may function in mitosis. Mutations in this gene have been associated with GO. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. Mutations, a homozygous frameshift mutation (c.306dup p.(pro 103 Thrfs*20)). Interestingly, phenotypic variability was observed in this patient with GO features that were more atypical than the cases reported in the literature as he looks tall stature where most of the cases reported were short and arachnodactyly fingers which mimic other syndromes.
摘要：
老年骨胚病（GO;MIM231070）的特征是典型的早衰性面部外观，皱纹，松懈的皮肤，关节松弛,骨骼异常伴不同程度的骨质减少，频繁骨折,脊柱侧弯,弯曲的长骨，椎体塌陷,和过度伸展的手指。该疾病是由GORAB-golgin突变引起的，RAB6相互作用。这个基因编码golgin家族的一个成员,golgin上的一组卷曲螺旋蛋白，映射到染色体1q24。编码的蛋白质在分泌途径中具有功能，通过末端激酶样蛋白鉴定，因此，它可能在有丝分裂中起作用。该基因的突变与GO有关。在这里，我们描述了一名来自沙特相关父母的年轻男性患者的临床表现.突变,纯合移码突变(c.306dupp.(pro103Thrfs*20))。有趣的是,在该患者中观察到具有GO特征的表型变异性，该特征比文献中报道的病例更不典型，因为他看起来身材高大，其中报道的大多数病例都是短小的，并且是模拟其他综合征的。
