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首页> 外文期刊>Journal of human genetics >No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity
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No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity

机译：没有证据表明患有奥尔布赖特遗传性骨营养不良和血小板Gs活性异常的患者存在GNAS拷贝数变异

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摘要

Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features. PPHP is caused by paternally inherited loss-of-function mutations in the GNAS. Patients with 2q37 microdeletions or HDAC4 mutations are also defined as having an AHO-like phenotype with normal stimulatory G (Gs) function. We have studied 256 patients with AHO features but no other diagnosis. Their platelet Gs activity was determined via the aggregation-inhibition test showing Gs hypo- or hyperfuncton in 24% and 15% of the patients, respectively. Before initiating with detailed (epi)genetic GNAS studies, we here wanted to excluded copy number variants (CNVs) in GNAS as cause of AHO with a novel large-scale screening technique. Multiplex amplicon quantification (MAQ) for CNVs screening was developed for the 20q13.3 region including GNAS and potential long-range imprinting control elements such as STX16. This is the first large-scale GNAS CNV study in patients with common AHO features but no CNVs were detected. In conclusion, CNVs in the GNAS region are not likely to cause an AHO-like phenotype with or without abnormal platelet Gs activity. Future studies will be undertaken to find out whether these AHO patients with abnormal Gs function are characterized by GNAS coding or methylation defects.
机译：奥尔布赖特（Albright）的遗传性骨营养不良（AHO）的特征是身材矮小，脸圆，钙化，肥胖，近视和智力残疾。没有激素抵抗力的AHO被称为伪假性甲状旁腺功能减退症（PPHP），这是一种罕见的临床病，难以诊断，且特征高度可变。 PPHP是由GNAS中父系继承的功能丧失突变引起的。具有2q37微缺失或HDAC4突变的患者也被定义为具有正常G刺激（Gs）功能的AHO样表型。我们研究了256例具有AHO功能但没有其他诊断的患者。通过凝集抑制试验确定他们的血小板Gs活性，显示分别有24％和15％的患者存在Gs功能不足或功能亢进。在开始详细的（表）遗传性GNAS研究之前，我们这里想通过新颖的大规模筛选技术排除GNAS中作为AHO病因的拷贝数变异（CNV）。 CNVs筛选的多重扩增子定量（MAQ）已开发用于20q13.3区域，包括GNAS和潜在的远程印迹控制元件（如STX16）。这是首次针对具有常见AHO特征但未检测到CNV的患者进行的大规模GNAS CNV研究。总之，在有或没有异常血小板Gs活性的情况下，GNAS区的CNV不太可能引起AHO样表型。将进行进一步的研究以发现这些具有Gs功能异常的AHO患者是否以GNAS编码或甲基化缺陷为特征。

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