Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

• Autorzy: Soardi F C , Borchers Coeli F , Maciel-Guerra A T , Guerra-Junior G , Palandi de Mello M
• Języki publikacji: EN

Abstrakty

EN

The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal STY and no adrenal failure.

Słowa kluczowe

PL

gene mutation; NR5A1 gene; gonadal dysgenesis; phenotype; SRY gene; heterozygous mutation

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 2
• Opis fizyczny: p.223-224,ref.

Twórcy

autor

Soardi F C

• Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil

autor

Borchers Coeli F

• Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil

autor

Maciel-Guerra A T

• Department of Medical Genetics. Faculty of Medical Sciences. Campinas State University, Campinas. SP, Brazil

autor

Guerra-Junior G

• Department of Pediatrics, Faculty of Medical Sciences, Campinas State University, Campinas, SP, Brazil

autor

Palandi de Mello M

• Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering, Campinas State University, Caixa Postal 6010, 13083-875 Campinas, SP, Brasil

Bibliografia

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