Chair and Department of Internal Medicine and Endocrinology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Genes (Basel). 2020 Nov 21;11(11):1382. doi: 10.3390/genes11111382.
Primary hyperparathyroidism is a relatively common endocrine disorder, which may be hereditary. This report describes clinical, biochemical, radiographic, and genetic findings, the latter obtained using next generation sequencing (NGS), in three consanguineous patients. Gene panels in NGS consisted of 5 or 70 genes, including and . The first patient suffered from recurrent primary hyperparathyroidism. Primary hyperparathyroidism and pituitary microadenomas were afterwards diagnosed in two of her daughters. No clinical nor radiological features of gastroenteropancreatic neuroendocrine tumors were found. All three family members were heterozygous for NM_130799: c.1267T>A transversion, which is predicted to result in substitution of tryptophan with arginine in position 423. Additionally, the first patient was also a carrier of NM_020975: c.1946C>T missense mutation, which was not present in two other family members. We describe a family with a novel heterozygous mutation (NM_130799: c.1267T>A) in gene and postulate that it leads to MEN1 syndrome. The study underlies the importance of genetic testing in primary hyperparathyroidism in personalizing patients' care.
原发性甲状旁腺功能亢进症是一种相对常见的内分泌疾病，可能具有遗传性。本报告描述了 3 名近亲患者的临床、生化、影像学和遗传发现，后者通过下一代测序（NGS）获得。NGS 基因组合包括 5 或 70 个基因，包括 和 。第一个患者患有复发性原发性甲状旁腺功能亢进症。后来在她的两个女儿中诊断出原发性甲状旁腺功能亢进症和垂体微腺瘤。未发现胃肠胰神经内分泌肿瘤的临床或影像学特征。这 3 名家庭成员均为 NM_130799: c.1267T>A 颠换的杂合子，该突变预计会导致第 423 位的色氨酸被精氨酸取代。此外，第一个患者还是 NM_020975: c.1946C>T 错义突变的携带者，该突变在其他两个家庭成员中不存在。我们描述了一个家族携带 基因的新型杂合突变（NM_130799: c.1267T>A），并推测其导致 MEN1 综合征。该研究强调了在原发性甲状旁腺功能亢进症中进行基因检测对患者个体化治疗的重要性。
