Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.

IF 2.4 4区医学 Q2 DEVELOPMENTAL BIOLOGY Sexual Development Pub Date : 2023-01-01 DOI:10.1159/000529720

Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani, Maki Gau, Ryosei Iemura, Haruki Yamano, Toru Kanamori, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kentaro Okamoto, Tomohiro Udagawa, Kei Takasawa, Tomohiro Morio, Kenichi Kashimada

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引用次数: 1

Abstract

Introduction: The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the 9 patients reported were de novo, and no familial cases were identified.

Case presentation and results: The proband (16-year-old social female) had a 46,XX karyotype with dysplastic testes and moderate virilization in genitalia. A ZF4 variant, p.Arg495Gln, in WT1 was identified in the proband, her brother, and mother. The mother did not show any virilization with normal fertility, and the 46,XY brother developed normal puberty.

Conclusion: The phenotypic variations due to the ZF4 variant are extremely broad in 46,XX cases.

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由WT1锌指结构域第四变异引起的46,xx例性发育障碍的表型变异:一份家族病例报告

WT1中锌指(ZF)结构域1-3的变异是导致46,xy性发育障碍(DSD)的主要原因之一。最近，据报道，第四ZF的变种(ZF4变种)引起了46,xx DSD。然而，报告的9例患者均为新发病例，未发现家族性病例。病例介绍和结果:先证者(16岁社会女性)核型为46,xx，睾丸发育不良，生殖器中度男性化。在先证者、她的兄弟和母亲中发现了WT1中的一个ZF4变体p.a g495gln。母亲没有表现出任何男性化，生育能力正常，46岁的弟弟发育正常。结论:46,xx例ZF4变异引起的表型变异极为广泛。

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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来源期刊

Sexual Development 生物-发育生物学

CiteScore

4.00

自引率

4.30%

发文量

审稿时长

>12 weeks

期刊介绍： Recent discoveries in experimental and clinical research have led to impressive advances in our knowledge of the genetic and environmental mechanisms governing sex determination and differentiation, their evolution as well as the mutations or endocrine and metabolic abnormalities that interfere with normal gonadal development. ‘Sexual Development’ provides a unique forum for this rapidly expanding field. Its broad scope covers all aspects of genetics, molecular biology, embryology, endocrinology, evolution and pathology of sex determination and differentiation in humans and animals. It publishes high-quality original research manuscripts, review articles, short reports, case reports and commentaries. An internationally renowned and multidisciplinary editorial team of three chief editors, ten prominent scientists serving as section editors, and a distinguished panel of editorial board members ensures fast and author-friendly editorial processing and peer reviewing.