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Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.
- Source :
-
Human mutation [Hum Mutat] 2008 Feb; Vol. 29 (2), pp. 220-6. - Publication Year :
- 2008
-
Abstract
- XX true hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.286+1G>A mutation led to an aberrantly spliced mRNA (r.95&#95;286del), which is presumably translated into a partially functional protein (p.Ile32&#95;Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs.<br /> ((c) 2007 Wiley-Liss, Inc.)
- Subjects :
- Adult
Amino Acid Sequence
Base Sequence
DNA Mutational Analysis
Female
Gonads cytology
Humans
Molecular Sequence Data
RNA Splicing
RNA, Messenger genetics
RNA, Messenger metabolism
Syndrome
Thrombospondins chemistry
Homozygote
Mutation genetics
Ovotesticular Disorders of Sex Development genetics
Thrombospondins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-1004
- Volume :
- 29
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 18085567
- Full Text :
- https://doi.org/10.1002/humu.20665