Zhou Yikun, Liu Jianmei, Wu Shuai, Li Wanran, Zheng Yun
Department of Endocrinology and Metabolism, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
State Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, China.
Front Genet. 2022 Dec 7;13:1015021. doi: 10.3389/fgene.2022.1015021. eCollection 2022.
Weiss-Kruszka syndrome (WSKA) is a rare disease most often caused by mutations in the gene. To screen for hereditary diseases, exons from the patient's genome were sequenced. Genomic PCR experiments followed by Sanger sequencing were used to confirm the mutated genomic regions in the patient and his parents. We report a new mutation site, a heterozygous mutation (NM_021224.6:c.6311dup) in in a male patient of 8 years old. The mutation in the gene caused WSKA. This patient is the first case with WSKA characterized by attention-deficit hyperactivity disorder and complete growth hormone deficiency without pituitary lesions. Our results suggest that the heterozygous mutation in is the direct cause of WSKA in this patient. Mutations in other genes interacting with result in similar symptoms of WSKA. Furthermore, and its interacting proteins ASXL2 and VPS13B may form a protein complex that is important for normal development but awaits more studies to reveal its detailed functions.
魏斯-克鲁什卡综合征（WSKA）是一种罕见疾病，最常见的病因是该基因的突变。为了筛查遗传性疾病，对患者基因组的外显子进行了测序。通过基因组PCR实验及随后的桑格测序来确认患者及其父母基因组中的突变区域。我们报告了一个新的突变位点，一名8岁男性患者中的杂合突变（NM_021224.6:c.6311dup）。该基因的突变导致了WSKA。该患者是首例以注意力缺陷多动障碍和完全性生长激素缺乏且无垂体病变为特征的WSKA病例。我们的结果表明，该基因中的杂合突变是该患者WSKA的直接病因。与该基因相互作用的其他基因的突变会导致WSKA的类似症状。此外，该基因及其相互作用蛋白ASXL2和VPS13B可能形成一种对正常发育很重要的蛋白质复合物，但还需要更多研究来揭示其详细功能。
