Alotaibi Maha, Aldhubaiban Deema, Alasmari Ahmed, Alotaibi Leena
Department of Genetics, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia.
Department of Periodontology, King Saud Medical City, Riyadh, Saudi Arabia.
Glob Med Genet. 2021 Dec 17;9(2):175-178. doi: 10.1055/s-0041-1740468. eCollection 2022 Jun.
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.
骨发育异常性皮肤老化症（GO；MIM 231070）的特征为典型的早老样面容、皮肤起皱且松弛、关节松弛、骨骼异常，伴有不同程度的骨质减少、频繁骨折、脊柱侧弯、长骨弯曲、椎体塌陷以及手指过度伸展。该病症由与RAB6相互作用的GORAB - 高尔基体蛋白的突变引起。此基因编码高尔基体蛋白家族的一员，这是一组定位于高尔基体的卷曲螺旋蛋白，定位于染色体1q24。编码的蛋白质在分泌途径中发挥作用，由末端激酶样蛋白鉴定，因此，它可能在有丝分裂中发挥作用。该基因的突变与GO相关。在此，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。存在一个纯合移码突变（c.306dup p.(pro 103 Thrfs*20)）。有趣的是，在该患有GO的患者中观察到了表型变异性，其特征比文献报道的病例更不典型，因为他身材高大，而大多数报道的病例身材矮小，并且有类似其他综合征的蜘蛛样指。
