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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Daphne Lehalle 1, 2, 3, * Umut Altunoglu 4 Ange-Line Bruel 2, 3 Mirna Assoum 2, 3 Yannis Duffourd 2, 3 Alice Masurel 1 Geneviève Baujat 5 Bettina Bessieres 6 Guillaume Captier 7 Patrick Edery 8, 9 Nursel Elçioğlu David Geneviève 10 Alice Goldenberg 11 Delphine Heron 12, 13 Sarah Grotto 11 Sandrine Marlin 14 Audrey Putoux 8, 9 Massimiliano Rossi 8, 9 Pascale Saugier-Veber 15 Stéphane Triau 16 Christelle Cabrol 17 Myriam Vezain 15 Catherine Vincent-Delorme 18 Christel Thauvin-Robinet 1, 2, 3 Julien Thevenon 1, 2, 3 Pierre Vabres 2, 3, 19 Patrick Callier 2, 3 Hulya Kayserili 20 Laurence Faivre 1, 2, 3, *
* Auteur correspondant
1 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
2 Equipe GAD (LNC - U1231)
LNC - Lipides - Nutrition - Cancer [Dijon - U1231]
3 UBFC - Université Bourgogne Franche-Comté [COMUE]
4 Departement of Genetics [University of Istanbul]
5 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
6 Laboratoire Histologie Embryologie Cytogénétique [CHU Necker]
7 Département de chirurgie infantile [CHRU de Montpellier]
8 CRNL - Centre de recherche en neurosciences de Lyon
9 Centre de références des syndromes malformatifs et anomalies du développement [CHU Lyon]
10 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
11 Service de génétique [Rouen]
12 CHU Pitié-Salpêtrière [APHP]
13 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
14 Inserm U781 - Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
15 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
16 Service de foetopathologie (CHU d'Angers)
17 CHRU Besançon - Centre Hospitalier Régional Universitaire [Besançon]
18 Service de génétique clinique (CHU Lille)
19 Service de Dermatologie (CHU de Dijon)
20 Istanbul University
Abstract : The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features (micro/anophtalmia, cataract, thyroid agenesis, polymicrogyria, olfactory bulb hypoplasia, and mandibular cleft), and emphasize the high frequency of nasal polyps in OAFNS (56%). We report the negative results of ALX1, ALX3, and ALX4 genes sequencing and next-generation sequencing strategy performed on blood-derived DNA from respectively, four and four individuals. Exome sequencing was performed in four individuals, genome sequencing in one patient with negative exome sequencing result. Based on the data from this series and the literature, diverse hypotheses can be raised regarding the etiology of OAFNS: mosaic mutation, epigenetic anomaly, oligogenism, or nongenetic cause. In conclusion, this series represents further clinical delineation work of the rare OAFNS, and paves the way toward the identification of the causing mechanism.
Keywords : Oculoauriculofrontonasal syndrome frontonasal dysplasia whole exome sequencing whole genome sequencing
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02005698
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : lundi 4 février 2019 - 11:24:47
Dernière modification le : vendredi 27 mars 2020 - 02:34:53

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UNIV-BOURGOGNE | SORBONNE-UNIVERSITE | CNRS | HCL | UNAM | UNIV-PARIS5 | UNIV-ST-ETIENNE | LNC-UMR866 | UNIV-LYON1 | LNC-GAD | BS | COMUE-NORMANDIE | UNIV-MONTPELLIER | UNIROUEN | USPC | ICM | SU-MEDECINE | GPMCND | UDL

Citation

Daphne Lehalle, Umut Altunoglu, Ange-Line Bruel, Mirna Assoum, Yannis Duffourd, et al.. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩. ⟨hal-02005698⟩

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