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
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.
Hum Genome Var. 2025 Sep 8;12(1):18. doi: 10.1038/s41439-025-00322-2.
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.
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。
