46,XY性发育障碍或差异患者中的DHX37变异体
DHX37 variants in patients with 46,XY disorders or differences of sex development.
作者信息
Katoh-Fukui Yuko, Saito Daisuke, Narumi Hiroko, Hattori Atsushi, Igarashi Maki, Uehara Erika, Shima Hirohito, Kanno Junko, Hasegawa Yukihiro, Horikawa Reiko, Nagasaki Keisuke, Fukami Maki
机构信息
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
出版信息
Hum Genome Var. 2025 Sep 8;12(1):18. doi: 10.1038/s41439-025-00322-2.
Abstract
Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.
摘要
在此，我们对17名患有46,XY性发育障碍或差异的日本患者进行了全外显子组测序，在3名患者中鉴定出两个致病的DEAH盒解旋酶37（DHX37）变体。我们还鉴定出一名患者，其SOX9基因存在一个可能致病的变体，DHX37基因存在一个罕见的可能良性的变体。本数据报告突出了DXH37变体的遗传和表型多样性。
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本文引用的文献
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Case Rep Pediatr. 2024 Jun 12;2024:4896940. doi: 10.1155/2024/4896940. eCollection 2024.
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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.具有罕见 NR5A1/SF-1 性别发育变异的个体的大型国际队列的临床和遗传特征。
EBioMedicine. 2024 Jan;99:104941. doi: 10.1016/j.ebiom.2023.104941. Epub 2024 Jan 1.
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DHX37 and the Implications in Disorders of Sex Development: An Update Review.DHX37 及其在性别发育障碍中的意义：更新综述。
Horm Res Paediatr. 2024;97(5):433-444. doi: 10.1159/000535969. Epub 2023 Dec 23.
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Life (Basel). 2023 Apr 27;13(5):1093. doi: 10.3390/life13051093.
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Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.临床和遗传学方法对诊断209例46,XY性发育差异索引病例的贡献。
J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064.
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10
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