Elevation of one eye during tooth brushing

Gottlob, Irène; Jain, Sunila; Engle, Elizabeth C.

doi:10.1016/s0002-9394(02)01540-4

Cited by 16 publications

(11 citation statements)

References 4 publications

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“…Three additional individuals with CFEOM1 and MG (AL03, EO01, and EX01 15 ) and 1 individual with unilateral hypertropia during toothbrushing (FG01 22 ) were identified from our records of patients with CFEOM and previously reported KIF21A mutations 5 ( Table 2). Individual AL03 harbors a 3029T→C mutation (I1010T).…”

Section: Additional Cfeom Cases With Extensive Dysinnervation Associamentioning

confidence: 99%

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A Novel kif21a Mutation in a Patient With Congenital Fibrosis of the Extraocular Muscles and Marcus Gunn Jaw-Winking Phenomenon

Yamada

Hunter²,

Andrews³

et al. 2005

Arch Ophthalmol

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Objective: To determine whether congenital fibrosis of the extraocular muscles (CFEOM) with Marcus Gunn jaw-winking phenomenon (MG) can result from mutations in the KIF21A gene encoding a kinesin motor protein.Methods: An individual with CFEOM1 (classic autosomal dominant CFEOM) and MG underwent a comprehensive ophthalmic examination. He and his healthy parents underwent screening for mutations in the KIF21A gene by direct DNA sequencing. The clinical records of our previously described patients with CFEOM and KIF21A mutations were reviewed for evidence of more extensive dysinnervation.Results: A de novo and novel KIF21A mutation 2840T→C (M947T) was present in the proband. In ad-dition, among our previously described patients with CFEOM and KIF21A mutations, 3 individuals had MG and 1 had hypertropia during toothbrushing.Conclusions: This report introduces a new CFEOM1 KIF21A mutation and is, to our knowledge, the first report of a genetic defect associated with MG. The combination of CFEOM1 with MG supports a primary neurogenic etiology of CFEOM resulting from KIF21A mutations.Clinical Relevance: These findings will increase understanding of the etiology of CFEOM and increase awareness of the affiliation of CFEOM with MG.

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Section: Additional Cfeom Cases With Extensive Dysinnervation Associamentioning

confidence: 99%

“…A second example of the extensive dysinnervation in individuals with CFEOM is the unilateral hypertropia that was observed during toothbrushing in 1 CFEOM1 case. 22 This phenomenon likely results from aberrant innervation between branches of the trigeminal and oculomotor nerves.…”

mentioning

confidence: 99%

A Novel kif21a Mutation in a Patient With Congenital Fibrosis of the Extraocular Muscles and Marcus Gunn Jaw-Winking Phenomenon

Yamada

Hunter²,

Andrews³

et al. 2005

Arch Ophthalmol

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“…Another possibility includes a communication of CN III with CN IV, VI, and V in the cavernous sinus (Shafer and Symington 1909;Busacca 1925;Warwick 1976;Whitnall 1979;Gottlob et al 2002;Kassem and Kodsi 2009). Such a communication between CN III and V can lead to Marcus-Gunn jaw-winking syndrome ( Fig.…”

Section: Oculomotor Nerve (Cn Iii)mentioning

confidence: 99%

“…Symptoms include hypoplasia of the superior oblique, head tilt, increased hypertropia on ipsilateral gaze, and an association with Brown syndrome (Kaeser et al 2012). Source: Gottlob et al (2002). Reproduced with permission from Elsevier.…”

Section: Trochlear Nerve (Cn Iv)mentioning

confidence: 99%

Cranial Nerves N‐VI

Voirol

Strothmann

Zandian

et al. 2016

Bergman's Comprehensive Encyclopedia of Human Anatomic Variation

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“…Jahr hun derts ins ge samt we nig Be ach tung [13]. Licht-und elek tro nen mi kro sko pi sche Be fun de be schrie ben einen völ li gen Ersatz des Mus kel ge we bes durch Bin de gewe be in den be trof fe nen Mus keln [14,16,20]. Meh re re Au to ren er wähn ten je doch einen bin de ge we bi gen Um bau mit In seln nor mal er schei nen den Mus kel ge we bes [13].…”

Section: Pa Tho Ge Ne Seunclassified

Die kongenitale Fibrose der äußeren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen kranialen Dysinnervationssyndrome (CCDD)

2005

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Currently, different syndromes with congenital, nonprogressive, sporadic, or familial developmental abnormalities of the cranial nerves and its nuclei are classified as congenital cranial dysinnervation syndromes (CCDD). One of these syndromes, congenital fibrosis of extraocular muscles (CFEOM), is characterized mainly by bilateral ophthalmoplegia of the oculomotor and trochlear nerves. Within the scope of an overview, the case of a 60-year-old patient with congenital fibrosis of extraocular muscles type 1 (CFEOM1) with autosomal dominant inheritance and typical phenotype, but additional progression of the ocular symptoms, is presented. Symptoms were caused by the common C2860-->T mutation in exon 21 of the KIF21A gene on chromosome 12. Further CCDD syndromes include the following phenotypes: congenital ptosis, Duane syndrome, horizontal gaze palsy, Möbius' syndrome, and congenital facial palsy. There are 13 different known gene loci for one of these phenotypes. Five gene products have been identified: the kinesin motor protein Kif21a, the transcription factors ARIX and SALL4, and the carboxypeptidase CPAH.

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Elevation of one eye during tooth brushing

Cited by 16 publications

References 4 publications

A Novel kif21a Mutation in a Patient With Congenital Fibrosis of the Extraocular Muscles and Marcus Gunn Jaw-Winking Phenomenon

A Novel kif21a Mutation in a Patient With Congenital Fibrosis of the Extraocular Muscles and Marcus Gunn Jaw-Winking Phenomenon

Cranial Nerves N‐VI

Die kongenitale Fibrose der äußeren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen kranialen Dysinnervationssyndrome (CCDD)

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