Wang Cheng-Zhi, Guo Ling-Ling, Guo Qing-Hua, Mu Yi-Ming
Department of Endocrinology, The First Medical Center of PLA General Hospital, Beijing 100853, China.
Department of Endocrinology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China.
Int J Endocrinol. 2020 Jul 18;2020:5401738. doi: 10.1155/2020/5401738. eCollection 2020.
Pituitary stalk interruption syndrome (PSIS) is a rare congenital defect manifesting as various degrees of anterior pituitary hormone deficiency. Scattered familial cases have been found, revealing some genetic variants. However, most of the previous research studies involved an affected sibling, and the gene spectra of the patients' entire family have rarely been reported. We conducted a study of a family consisting of a PSIS patient with his unaffected sibling and healthy parents of Han Chinese background using whole-genome sequencing. Bioinformatic analysis was carried out, and mutations related to PSIS, single-nucleotide variants (SNVs), insertion-deletion (InDELs), and structural variations (SVs) in all the four samples were filtered. After Sanger sequencing, we confirmed the variants obtained and selected three candidate genes for functional verification. The gene variations in this boy with PSIS and his lineal relatives are reported herein; sequencing revealed that the gene may be involved in the pathogenesis of PSIS.
垂体柄中断综合征（PSIS）是一种罕见的先天性缺陷，表现为不同程度的垂体前叶激素缺乏。已发现散发性家族病例，揭示了一些基因变异。然而，之前的大多数研究涉及一名患病同胞，患者整个家族的基因谱很少被报道。我们对一个由一名患有PSIS的患者及其未患病的同胞以及具有汉族背景的健康父母组成的家庭进行了全基因组测序研究。进行了生物信息学分析，并筛选了所有四个样本中与PSIS相关的突变、单核苷酸变异（SNV）、插入缺失（InDEL）和结构变异（SV）。经过桑格测序，我们确认了获得的变异，并选择了三个候选基因进行功能验证。本文报道了这名患有PSIS的男孩及其直系亲属的基因变异；测序显示该基因可能参与PSIS的发病机制。
