Skip to Main content Skip to Navigation
Journal articles

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.: PRENATAL DIAGNOSIS OF IPEX SYNDROME

Radu Harbuz 1, 2 James Lespinasse 3 Stéphanie Boulet 4 Christine Francannet 5 Isabelle Creveaux 6 Mariem Benkhelifa 1, 2 Pierre-Simon Jouk 7 Joël Lunardi 1, 8 Pierre Ray 9, *
* Corresponding author
7 RFMQ
TIMC [2011-2015] - Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 [2011-2015], Département de génétique et procréation
9 ARCHAMPS
TIMC [2011-2015] - Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 [2011-2015], Département de génétique et procréation
Abstract : OBJECTIVE: Molecular diagnosis and prenatal care of two pregnant women at risk of transmitting immunodysregulation, polyendocrinopathy, enteropathy X-linked (IPEX) syndrome. METHODS: FOXP3 coding sequence and exon boundaries were analyzed in the two consultants and family members. Non-invasive sex determination and specific prenatal diagnosis was realized. RESULTS: Following sequence analysis a new FOXP3 mutation was identified in each consultant. Sex diagnosis realized by amplification of Y sequences from the plasma of the two mothers revealed a male and a female fetus, respectively. Prenatal diagnosis showed that the male fetus was unaffected. The baby is now born and healthy. Subsequent ultrasound examinations confirmed the sex in the second pregnancy but unfortunately led to the diagnosis of a 69,XXX triploidy. The pregnancy was thus interrupted. CONCLUSION: Two new FOXP3 mutations were identified and prenatal diagnosis could be proposed. Due to the rarity of the disease, clinical diagnosis is often considered with delay. Both patients reported here were already pregnant at the beginning of the genetic investigation and one had previously interrupted a male pregnancy for lack of diagnosis. When faced with children with severe refractory diarrhea, clinicians should entertain the possibility of IPEX.
Document type :
Journal articles
Complete list of metadatas

Cited literature [25 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-00588282
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, July 13, 2011 - 1:18:26 PM
Last modification on : Friday, July 17, 2020 - 2:06:15 PM
Long-term archiving on: : Thursday, March 30, 2017 - 9:46:54 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Citation

Radu Harbuz, James Lespinasse, Stéphanie Boulet, Christine Francannet, Isabelle Creveaux, et al.. Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.: PRENATAL DIAGNOSIS OF IPEX SYNDROME. Prenatal Diagnosis, Wiley, 2010, 30 (11), pp.1072-8. ⟨10.1002/pd.2613⟩. ⟨inserm-00588282⟩

Share

Metrics

Record views

278