Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

Autor: Christine Francannet, Mariem Benkhelifa, Stéphanie Boulet, Pierre-Simon Jouk, Pierre F. Ray, Isabelle Creveaux, Joël Lunardi, Radu Harbuz, James Lespinasse
Přispěvatelé: Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-faculté de médecine-pharmacie, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Département de Génétique Chromosomique, Bâtiment Hôtel Dieu - Centre Hospitalier de Chambéry, Département de Gynécologie Obstétrique, CH Chambéry, Unité de Génétique Médicale, Hôtel-Dieu-CHU Clermont-Ferrand-Université d'Auvergne - Clermont-Ferrand I (UdA), Laboratoire de Biochimie, Université d'Auvergne - Clermont-Ferrand I (UdA), RFMQ, Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-faculté de médecine-pharmacie-CHU Grenoble-faculté de médecine-pharmacie, Grenoble Institut des Neurosciences (GIN), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM), ARCHAMPS, VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-Département de génétique et procréation
Jazyk: angličtina
Rok vydání: 2010
Předmět:
Male
Pediatrics
MESH: Sequence Analysis
DNA
Disease
MESH: Intestinal Diseases
0302 clinical medicine
MESH: Pregnancy
Pregnancy
MESH: Reverse Transcriptase Polymerase Chain Reaction
IPEX
Enteropathy
MESH: Syndrome
MESH: Genetic Variation
Polyendocrinopathies
Autoimmune
Genetics (clinical)
0303 health sciences
Reverse Transcriptase Polymerase Chain Reaction
MESH: Infant
Newborn
immunological disorder
Obstetrics and Gynecology
Forkhead Transcription Factors
Genetic Diseases
X-Linked
Syndrome
3. Good health
030220 oncology & carcinogenesis
Female
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
medicine.medical_specialty
FOXP3
Prenatal diagnosis
Prenatal care
03 medical and health sciences
Male pregnancy
MESH: Polyendocrinopathies
Autoimmune
MESH: Forkhead Transcription Factors
MESH: RNA
medicine
MESH: Genetic Diseases
X-Linked
Humans
Point Mutation
Neonatology
MESH: Prenatal Diagnosis
030304 developmental biology
MESH: Point Mutation
prenatal diagnosis
MESH: Humans
business.industry
Infant
Newborn
Genetic Variation
Sequence Analysis
DNA
IPEX syndrome
medicine.disease
mutations
MESH: Male
Intestinal Diseases
Immunology
RNA
business
MESH: Female
Zdroj: Prenatal Diagnosis
Prenatal Diagnosis, 2010, 30 (11), pp.1072-8. ⟨10.1002/pd.2613⟩
Prenatal Diagnosis, Wiley, 2010, 30 (11), pp.1072-8. ⟨10.1002/pd.2613⟩
ISSN: 0197-3851
1097-0223
DOI: 10.1002/pd.2613⟩
Popis: 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. Copyright © 2010 John Wiley & Sons, Ltd.
Databáze: OpenAIRE
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