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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 Nursel Elçioğlu David Geneviève 9 Alice Goldenberg 10 Delphine Heron 11, 12 Sarah Grotto 10 Sandrine Marlin 13 Audrey Putoux 8 Massimiliano Rossi 8 Pascale Saugier-Veber 14 Stéphane Triau 15, 16 Christelle Cabrol 17 Myriam Vezain 14 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, * 
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.
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Soumis le : lundi 4 février 2019 - 11:24:47
Dernière modification le : jeudi 20 octobre 2022 - 15:10:07



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, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩. ⟨hal-02005698⟩



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