46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Details

Serval ID
serval:BIB_961479ED93B8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
Journal
Clinical Genetics
Author(s)
Stoppa-Vaucher S., Ayabe T., Paquette J., Patey N., Francoeur D., Vuissoz J.M., Deladoëy J., Samuels M., Ogata T., Deal C.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Publication state
Published
Issued date
2012
Peer-reviewed
Oui
Volume
82
Number
6
Pages
505-513
Language
english
Notes
Publication types: JOURNAL ARTICLE
Abstract
Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J-M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.
Pubmed
Web of science
Create date
06/12/2012 18:31
Last modification date
20/08/2019 14:58
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