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impe0096p3 | Adrenals and HPA Axis | IMPE2023

Developing A Novel application using long read sequence for CYP21A2 gene analysis

Adachi Eriko , Tsuji-Hosokawa Atsumi , Nakagawa Ryuichi , Gau Maki , Kirino Shizuka , Yogi Analia , Nakatani Hisae , Takasawa Kei , Morio Tomohiro , Ohara Osamu , Kashimada Kenichi

Introduction: The genetic polymorphisms in CYP21A2, the responsible gene of 21-hydroxylase deficiency (21OHD), are mostly generated by intragenic recombination with the adjacently located pseudogene, CYP21A1P, which shares 98% homologous sequences with CYP21A2. Gene conversion of the CYP21A2 region cannot be identified by usual PCR and Sanger sequencing, because of complicated cross-contamination of CYP21A1P. Next-g...

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impe0096p140 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

The first familial case of the WT1 Zinc Finger domain 4 pathogenic variant

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

Background: Wilms Tumor 1 gene (WT1) is essential for gonadal development and testicular development. Pathogenic variants in its 1-3rd Zinc Finger (ZF) domains are one of the major causes of 46, XY disorders of sex development (DSD). Interestingly, the variants located on the 4th ZF were recently described to cause the reversed phenotype, 46, XX DSD. Due to its clinical phenotype, i.e., 46, XX testicular DSD, all reported nine patients we...

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IMPE Abstracts

Developing A Novel application using long read sequence for CYP21A2 gene analysis

The first familial case of the WT1 Zinc Finger domain 4 pathogenic variant

BiosciAbstracts