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Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
Matthieu Peycelon1, Lamisse Mansour-Hendili, Capucine Hyon
1Department of Pediatric Surgery and Urology, Robert-Debré Pediatric Hospital, APHP, Paris, France.
Abstract:
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.
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