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首页> 外文期刊>Case Reports in Genetics >Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?
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Duplication of 17q11.2 and Features of Albright Hereditary Osteodystrophy Secondary to Methylation Defects within the GNAS Cluster: Coincidence or Causal?

机译：17q11.2的重复和GNAS集群内继甲基化缺陷后继发的Albright遗传性骨营养不良的特征：巧合还是因果？

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We report a case of Albright hereditary osteodystrophy (AHO) in a three-year-old girl with a microduplication at 17q11.2. The child developed obesity within the first 6 months of life. A diagnosis of Albright was made at age 2 years when biochemical evidence of parathyroid resistance was found. No mutations were identified in guanine nucleotide-binding protein G (s) subunit alpha (GNAS1). Subsequent investigations revealed methylation disturbance at GNAS1A, neuroendocrine secretory protein antisense (NESPAS) and neuroendocrine secretory protein 55 (NESP55) confirming a diagnosis of pseudohypothyroidism type 1B. A deletion of NESP55 and uniparental disomy chromosome 20 were excluded which suggested that the features of AHO arose through a purely epigenetic mechanism. Further investigation revealed ade novomicroduplication at 17q11.2 encompassing the neurofibromatosis type 1 (NF1) gene. The combination of two rarede novoevents in the same child raises the possibility that duplication of a gene within the 17q11.2 region may have triggered abnormal methylation in the GNAS cluster region on chromosome 20.
机译：我们在17q11.2上报告了一个3岁小女孩的Albright遗传性骨营养不良症（AHO）的病例，该病例有微复制。这孩子在出生后的头6个月内出现肥胖。当发现甲状旁腺抵抗的生化证据时，诊断为奥尔布赖特（Albright）是在2岁时。在鸟嘌呤核苷酸结合蛋白G（s）亚基alpha（GNAS1）中未发现突变。随后的调查显示，GNAS1A处的甲基化紊乱，神经内分泌分泌蛋白反义（NESPAS）和神经内分泌分泌蛋白55（NESP55）证实了1B型假性甲状腺功能减退的诊断。排除了NESP55和单亲二体性染色体20的缺失，这表明AHO的特征是通过纯表观遗传机制产生的。进一步的研究表明，在17q11.2处有ade novomicroduplication，包括1型神经纤维瘤病（NF1）基因。同一孩子中两个罕见新事件的组合增加了17q11.2区域内的基因重复可能触发20号染色体上的GNAS簇区域异常甲基化的可能性。

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