Recurrent Intragenic Duplication within the <b><i>NR5A1</i></b> Gene and Severe Proximal Hypospadias - Archive ouverte HAL Access content directly
Journal Articles Sexual Development Year : 2018

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

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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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Dates and versions

inserm-03837653 , version 1 (03-11-2022)

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Cite

Matthieu Peycelon, Lamisse Mansour-Hendili, Capucine Hyon, Nathalie Collot, Muriel Houang, et al.. Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. Sexual Development, 2018, 11 (5-6), pp.293-297. ⟨10.1159/000485909⟩. ⟨inserm-03837653⟩
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