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The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
- Source :
- American Journal of Medical Genetics Part A, American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩, American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
- Publication Year :
- 2018
- Publisher :
- HAL CCSD, 2018.
-
Abstract
- IF 2.264; International audience; 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.
- Subjects :
- 0301 basic medicine
Male
Inheritance Patterns
030105 genetics & heredity
frontonasal dysplasia
whole exome sequencing
Craniofacial Abnormalities
0302 clinical medicine
Polymicrogyria
Eye Abnormalities
Ear, External
10. No inequality
Child
Genetics (clinical)
Exome sequencing
whole genome sequencing
Thyroid agenesis
Hypoplasia
DNA-Binding Proteins
Phenotype
Child, Preschool
Female
Respiratory System Abnormalities
medicine.medical_specialty
Adolescent
Quantitative Trait Loci
Oculoauriculofrontonasal syndrome
03 medical and health sciences
Exome Sequencing
Genetics
medicine
Humans
Genetic Predisposition to Disease
Frontonasal dysplasia
Genetic Association Studies
Whole genome sequencing
Homeodomain Proteins
business.industry
Facial cleft
Skull
Infant, Newborn
Facies
Infant
030206 dentistry
medicine.disease
Dermatology
Spine
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Dysplasia
business
Tomography, Spiral Computed
Transcription Factors
Subjects
Details
- Language :
- English
- ISSN :
- 15524825 and 15524833
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A, American Journal of Medical Genetics Part A, Wiley, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩, American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2740-2750. ⟨10.1002/ajmg.a.40662⟩
- Accession number :
- edsair.doi.dedup.....ed85d9dcbee7c7e221189cbeb14ae4d7