DHX37 variants in patients with 46,XY disorders or differences of sex development.

IF 1.3 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-09-08 DOI:10.1038/s41439-025-00322-2

Yuko Katoh-Fukui, Daisuke Saito, Hiroko Narumi, Atsushi Hattori, Maki Igarashi, Erika Uehara, Hirohito Shima, Junko Kanno, Yukihiro Hasegawa, Reiko Horikawa, Keisuke Nagasaki, Maki Fukami

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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.

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46、XY疾病患者DHX37变异或性别发育差异。

在这里，我们对17名患有46，xy疾病或性别发育差异的日本患者进行了全外显子组测序，在3名患者中发现了两种致病性DEAH-box解旋酶37 （DHX37）变异。我们还发现了一名患者，其SOX9可能具有致病性变异，而DHX37可能具有罕见的良性变异。本数据报告强调了DXH37变异的遗传和表型多样性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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