• PMID: 29332064
• Gene Name: NR5A1
• Condition: Hypospadias
• Association: Associated
• Mutation: intragenic duplication within the repeated area (CTGCAGCTG)×2
• Population size: 1
• Population details: 1 case
• Age: 15 yrs
• Sex: Male
• Infertility type: Male infertility

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP.

A heterozygous intragenic duplication within the repeated area (CTGCAGCTG)×2 of the NR5A1 gene was found in a 15-year-old 46,XY DSD (disorders/differences of sex development) patient with micropenis and severe proximal hypospadias. This heterozygous duplication has already been described twice in boys with a similar phenotype, whereas a deletion of 3 amino acids at the same position in the protein SF-1 has been described in a 46,XX patient with primary ovarian failure and short stature. These data suggest that this region within the NR5A1 gene has an important role for SF-1 protein function in gonads and is a hotspot for intragenic rearrangements. CI - © 2018 S. Karger AG, Basel. FAU - Peycelon, Matthieu AU - Peycelon M AD - Department of Pediatric Surgery and Urology, Robert-Debré Pediatric Hospital, APHP, Paris, France. FAU - Mansour-Hendili, Lamisse AU - Mansour-Hendili L FAU - Hyon, Capucine AU - Hyon C FAU - Collot, Nathalie AU - Collot N FAU - Houang, Muriel AU - Houang M FAU - Legendre, Marie AU - Legendre M FAU - Chabaud, Maud AU - Chabaud M FAU - Bouvier, Marie-Dominique AU - Bouvier MD FAU - Audry, Georges AU - Audry G FAU - Amselem, Serge AU - Amselem S