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

Détails

ID Serval
serval:BIB_961479ED93B8
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
Périodique
Clinical Genetics
Auteur(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
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Volume
82
Numéro
6
Pages
505-513
Langue
anglais
Notes
Publication types: JOURNAL ARTICLE
Résumé
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
Création de la notice
06/12/2012 19:31
Dernière modification de la notice
03/03/2018 19:41
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