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Case report: A heterozygous mutation in ZNF462 leads to growth hormone deficiency

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机构： [1]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. [2]State Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, China. [3]College of Horticulture and Landscape, Yunnan Agricultural University, Kunming, China.

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关键词： growth hormone deficiency (GHD) ZNF462 Weiss–Kruszka syndrome (WSKA) mutation case report

摘要：

Weiss-Kruszka syndrome (WSKA) is a rare disease most often caused by mutations in the ZNF462 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 ZNF462 in a male patient of 8 years old. The mutation in the ZNF462 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 ZNF462 is the direct cause of WSKA in this patient. Mutations in other genes interacting with ZNF462 result in similar symptoms of WSKA. Furthermore, ZNF462 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.Copyright © 2022 Zhou, Liu, Wu, Li and Zheng.

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出版当年[2022]版：

大类 | 3 区生物学

小类 | 3 区遗传学

最新[2023]版：

大类 | 3 区生物学

小类 | 3 区遗传学

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出版当年[2021]版：

Q1 GENETICS & HEREDITY

最新[2023]版：

Q2 GENETICS & HEREDITY

影响因子： 2.8 最新[2023版] 3.3 最新五年平均 4.772 出版当年[2021版] 4.933 出版当年五年平均 4.599 出版前一年[2020版] 3.7 出版后一年[2022版]

第一作者：

第一作者机构： [1]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.

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通讯作者：

通讯机构： [1]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. [2]State Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, China. [3]College of Horticulture and Landscape, Yunnan Agricultural University, Kunming, China.

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