Fertility preservation in a family with a novel NR5A1 mutation

Endocrine Journal

Masaki Takagi²  Hiroko Yagi³  Masafumi Kon¹  Maki Igarashi¹  Maki Fukami¹  Yukihiro Hasegawa³ 

[1] Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan;Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan;Division of Genetic Research, Tokyo Metropolitan Children’s Medical Center, Tokyo 183-8561, Japan

关键词: NR5A1 gene;    Fertility;    Hypospadias;   

DOI  :  10.1507/endocrj.EJ14-0340

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(11)The common phenotype of nuclear receptor superfamily 5, group A, member 1 (NR5A1) gene mutations in 46,XY is gonadal dysgenesis without adrenal deficiency.Though the phenotype of gonadal dysgenesis is variable, ranging from complete female to normal male genitalia, an asymptomatic 46,XY male is rare.Preserved fertility has so far been described in only three affected 46,XY males with different mutations, but no functional analysis of these mutations has been performed.Here, we report on male siblings with hypospadias and their asymptomatic father in whom we identified a heterozygous NR5A1 mutation of c.910G>A, p.E304K.Western blotting and subcellular localization revealed no significant difference between the wild type (WT) and E304K.Electrophoretic mobility shift assay experiments showed that E304K abrogated DNA-binding ability.E304K reduced transactivation and had no dominant negative effect.In conclusion, we report on a novel hypomorphic NR5A1 mutation, which may be associated with the phenotype of the family.

【 授权许可】

Unknown