Ratbi Ilham, Elalaoui Siham Chafai, Moizard Marie-Pierre, Raynaud Martine, Sefiani Abdelaziz
Department of Medical Genetics, National Institute of Health, Morocco.
Turk J Pediatr. 2010 Sep-Oct;52(5):525-8.
Simpson-Golabi-Behmel Syndrome (SGBS) is a rare recessive X-linked disorder characterized by pre- and postnatal overgrowth, distinctive dysmorphic facies and variable congenital malformations. Most cases have been attributed to mutations in the Glypican-3 (GPC3) gene located at Xq26. Glypican-3 plays essential roles in development by modulating cellular responses to growth factors and morphogens. We report here a novel nonsense mutation of the GPC3 gene in a five-year-old Moroccan patient of consanguineous parents who had SGBS phenotype associated with congenital hypothyroidism.
辛普森-戈拉比-贝梅尔综合征（SGBS）是一种罕见的隐性X连锁疾病，其特征为出生前后过度生长、独特的畸形面容和多种先天性畸形。大多数病例归因于位于Xq26的磷脂酰肌醇蛋白聚糖-3（GPC3）基因突变。磷脂酰肌醇蛋白聚糖-3通过调节细胞对生长因子和形态发生素的反应在发育过程中发挥重要作用。我们在此报告一名五岁摩洛哥患儿的GPC3基因新的无义突变，该患儿父母为近亲结婚，具有与先天性甲状腺功能减退相关的SGBS表型。
