Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Manara, Renzo; Brotto, Davide; Ghiselli, Sara; Mardari, Rodica; Toldo, Irene; Schifano, Giovanni; Cantone, Elena; Bovo, Roberto

doi:10.3174/ajnr.a4273

Cited by 36 publications

(26 citation statements)

References 27 publications

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“…This view is supported by the observations from the study conducted by Manara et al 24 These authors investigated the abnormalities of cranial nerves and its association with phenotypic severity of hemifacial microsomia and microtia subjects. 24 The authors investigated (MRI, CT and neurologic evaluation) 29…”

Section: Discussionmentioning

confidence: 69%

“…This view is supported by the observations from the study conducted by Manara et al These authors investigated the abnormalities of cranial nerves and its association with phenotypic severity of hemifacial microsomia and microtia subjects . The authors investigated (MRI, CT and neurologic evaluation) 29 subjects with hemifacial microsomia and microtia, of which 19 had a severe phenotype . Interestingly, the cranial nerve morphologic abnormalities in the form of trigeminal and facial nerve dysfunction (44% and 58%, respectively) were identified to be more common and correlated with the phenotypic severity .…”

Section: Discussionmentioning

confidence: 83%

“…Given the function of AMIGO2 gene in inhibiting apoptosis in neurons, adhesion and axon tract development, we hypothesize that development of the nervous system may have an intimate role in the development of the bones and muscles of the craniofacial region. This view is supported by the observations from the study conducted by Manara et al These authors investigated the abnormalities of cranial nerves and its association with phenotypic severity of hemifacial microsomia and microtia subjects . The authors investigated (MRI, CT and neurologic evaluation) 29 subjects with hemifacial microsomia and microtia, of which 19 had a severe phenotype .…”

Section: Discussionmentioning

confidence: 86%

“…The authors investigated (MRI, CT and neurologic evaluation) 29 subjects with hemifacial microsomia and microtia, of which 19 had a severe phenotype . Interestingly, the cranial nerve morphologic abnormalities in the form of trigeminal and facial nerve dysfunction (44% and 58%, respectively) were identified to be more common and correlated with the phenotypic severity . It is well known that the trigeminal and facial nerves are derivatives of the first and second pharyngeal arches, respectively, and innervate the muscles of mastication and facial expression, respectively .…”

Section: Discussionmentioning

confidence: 99%

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A novel nonsense substitution identified in the AMIGO2 gene in an Occulo‐Auriculo‐Vertebral spectrum patient

Farrow

et al. 2019

Orthod Craniofacial Res

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Structured Abstract Objective Craniofacial microsmia is the second most common congenital disorder with mostly unilateral defects of ear, temporomandibular joint, mandible, and muscles of facial expression and mastication. The objective of this study was to identify, if there were any, de novo germline or somatic variants in a patient with Occulo‐Auriculo‐Vertebral Spectrum (OAVS) using whole‐exome sequencing. Settings and Sample Population Trio/Family‐based study of an OAVS proband. Materials and Methods Children's Mercy Hospital Institutional Review Board approved this study and a request‐to‐rely was procured from the University of Missouri Kansas City IRB. Informed assent/consent was obtained for all family members prior to any research activities. The peripheral blood/affected side tissues from corrective surgery of the proband and peripheral blood samples from unaffected parents were collected. The isolated genomic DNA were enriched for exomes and sequenced on an Illlumina HiSeq 2500 instrument yielding paired‐end 125 nucleotide reads (84X coverage). Gapped alignment to reference sequences (GRCh37.p5) was performed with BWA and the GATK and analysis completed using custom‐developed software. Results Analyses revealed that the proband carried a de novo germ line nonsense substitution (c.901C>T) in AMIGO2 gene, and missense substitutions in ZCCHC14 (c.1198C>T), and in SZT2 genes (c.2951C>T). Conclusions The nonsense substitution in AMIGO2 gene introduces a premature stop codon possibly rendering the gene non‐functional via nonsense‐mediated pathway decay—therefore considered a stronger candidate. Further functional studies are required to confirm whether loss‐of‐function variants in AMIGO2 can cause OAVS.

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo‐Auriculo‐Vertebral spectrum patient

Farrow

et al. 2019

Orthod Craniofacial Res

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“…In a recent MR imaging study [85], cranial nerve anomalies have been specifically addressed and showed to be exceptionally frequent: they were not limited to hypo-/aplasia but also included course abnormalities and partial or complete fusion of two or more nerves. Such nerve abnormalities were strongly associated with the Goldenhar end of the spectrum.…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 99%

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

D’Arco

Youssef

Ioannidou

et al. 2020

European Journal of Radiology

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To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understanding of distinct imaging features in paediatric patients with syndromic hearing loss. Methods: A detailed search of electronic databases has been conducted, including PubMed, Ovid Medline, Scopus, Cochrane Library, Google Scholar, National Institute for Health and Care Excellence (NICE), Embase, and PsycINFO. Results: Syndromic causes of hearing loss are characterised by different and sometimes specific abnormalities in the temporal bone. Conclusion: A complete knowledge of the image findings in the temporal bones, brain, skull and other body regions is critical for the optimal assessment and management of these patients. 2.1. Inner ear The inner ear development starts late in the 3rd week of gestation, with the formation of the otic placode (an ectodermal thickening on both sides of the developing head).The otic placode later invaginates to form otic pits which then fuse to form the otic vesicle. By day 26, the ventral region of otic vesicle differentiates into the saccule, the lower pole of which gives rise to the cochlear duct, which will form 2.5 turns by the 8th week. During the 7th week, cochlear duct epithelial cells differentiate to form the Organ of Corti. The mesenchyme surrounding the cochlear

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Goldenhar Syndrome

Chen¹

2016

Atlas of Genetic Diagnosis and Counseling

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Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum

Cited by 36 publications

References 27 publications

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo‐Auriculo‐Vertebral spectrum patient

A novel nonsense substitution identified in the AMIGO2 gene in an Occulo‐Auriculo‐Vertebral spectrum patient

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

Goldenhar Syndrome

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