PDF(Pubmed)
Abstract：
UNASSIGNED: Various genes have been associated with familial and sporadic primary hyperparathyroidism (PHPT), including activating mutations of the glial cells missing transcription factor 2 (GCM2) gene.
UNASSIGNED: The aim of this study was to assess the prevalence of the GCM2 p.Tyr394Ser variant in the Jerusalem Ashkenazi Jewish (AJ) population with PHPT, and to conclude whether routine genetic testing is justified.
UNASSIGNED: The blood of 40 self-reported AJ patients with PHPT and 200 AJ controls was tested for the GCM2 p.Tyr394Ser variant. Demographic and medical information was extracted from the patients\' charts and evaluated accordingly.
UNASSIGNED: Two (5%) PHPT patients and 3 (1.5%) controls were heterozygotes for the tested variant. Our patients were mostly (87.5%) sporadic cases. One of the heterozygote patients had familial PHPT; the other had 2 parathyroid adenomas, and the levels of his blood and urinary calcium were extremely high.
UNASSIGNED: Our results suggest that in AJ patients with sporadic, single-gland PHPT, the likelihood of the tested variant is low and genetic testing should be limited to those with familial PHPT or multiglandular disease.
UNASSIGNED: The aim of this study was to assess the prevalence of the GCM2 p.Tyr394Ser variant in the Jerusalem Ashkenazi Jewish (AJ) population with PHPT, and to conclude whether routine genetic testing is justified.
UNASSIGNED: The blood of 40 self-reported AJ patients with PHPT and 200 AJ controls was tested for the GCM2 p.Tyr394Ser variant. Demographic and medical information was extracted from the patients\' charts and evaluated accordingly.
UNASSIGNED: Two (5%) PHPT patients and 3 (1.5%) controls were heterozygotes for the tested variant. Our patients were mostly (87.5%) sporadic cases. One of the heterozygote patients had familial PHPT; the other had 2 parathyroid adenomas, and the levels of his blood and urinary calcium were extremely high.
UNASSIGNED: Our results suggest that in AJ patients with sporadic, single-gland PHPT, the likelihood of the tested variant is low and genetic testing should be limited to those with familial PHPT or multiglandular disease.
摘要：
■各种基因与家族性和散发性原发性甲状旁腺功能亢进（PHPT）有关，包括神经胶质细胞缺失转录因子2（GCM2）基因的激活突变。
■这项研究的目的是评估GCM2p.Tyr394Ser变体在耶路撒冷阿什肯纳齐犹太人（AJ）人群中的患病率，并得出常规基因检测是否合理的结论。
■对40名自我报告的患有PHPT的AJ患者和200名AJ对照的血液进行了GCM2p.Tyr394Ser变体测试。从患者图表中提取人口统计学和医学信息，并进行相应评估。
■两个（5％）PHPT患者和3个（1.5％）对照是测试变体的杂合子。我们的患者大多是（87.5％）散发病例。其中一名杂合子患者有家族性PHPT；另一个有2个甲状旁腺腺瘤，他的血液和尿钙水平非常高。
■我们的结果表明，在散发性AJ患者中，单腺体PHPT,检测变异的可能性较低,基因检测应仅限于家族性PHPT或多腺体疾病患者.
■这项研究的目的是评估GCM2p.Tyr394Ser变体在耶路撒冷阿什肯纳齐犹太人（AJ）人群中的患病率，并得出常规基因检测是否合理的结论。
■对40名自我报告的患有PHPT的AJ患者和200名AJ对照的血液进行了GCM2p.Tyr394Ser变体测试。从患者图表中提取人口统计学和医学信息，并进行相应评估。
■两个（5％）PHPT患者和3个（1.5％）对照是测试变体的杂合子。我们的患者大多是（87.5％）散发病例。其中一名杂合子患者有家族性PHPT；另一个有2个甲状旁腺腺瘤，他的血液和尿钙水平非常高。
■我们的结果表明，在散发性AJ患者中，单腺体PHPT,检测变异的可能性较低,基因检测应仅限于家族性PHPT或多腺体疾病患者.
