Congenital anomalies in patients with Duane retraction syndrome and their relatives

Marshman, WE; Schalit, G.; Jones, Raymond B.; Lee, J.P.; Matthews, Tim; McCabe, S E

doi:10.1067/mpa.2000.103439

Cited by 41 publications

(34 citation statements)

References 10 publications

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“…Intriguingly, chick oculomotor axons are repelled by ephrin-A5 (Ferrario et al, 2012), suggesting that defects in ␣2-chimaerin-mediated ephrin-A:EphA signaling may play a role in DRS pathogenesis. Furthermore, neuromusculoskeletal abnormalities, such as club foot, occur with high incidence in DRS patients (Marshman et al, 2000), potentially implicating defects in ␣2-chimaerin and/or EphA signaling in such comorbidities.…”

Section: Discussionmentioning

confidence: 99%

α2-Chimaerin Is Required for Eph Receptor-Class-Specific Spinal Motor Axon Guidance and Coordinate Activation of Antagonistic Muscles

et al. 2015

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Axonal guidance involves extrinsic molecular cues that bind growth cone receptors and signal to the cytoskeleton through divergent pathways. Some signaling intermediates are deployed downstream of molecularly distinct axon guidance receptor families, but the scope of this overlap is unclear, as is the impact of embryonic axon guidance fidelity on adult nervous system function. Here, we demonstrate that the Rho-GTPase-activating protein ␣2-chimaerin is specifically required for EphA and not EphB receptor signaling in mouse and chick spinal motor axons. Reflecting this specificity, the loss of ␣2-chimaerin function disrupts the limb trajectory of extensor-muscleinnervating motor axons the guidance of which depends on EphA signaling. These embryonic defects affect coordinated contraction of antagonistic flexor-extensor muscles in the adult, indicating that accurate embryonic motor axon guidance is critical for optimal neuromuscular function. Together, our observations provide the first functional evidence of an Eph receptor-class-specific intracellular signaling protein that is required for appropriate neuromuscular connectivity.

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Section: Discussionmentioning

confidence: 99%

α2-Chimaerin Is Required for Eph Receptor-Class-Specific Spinal Motor Axon Guidance and Coordinate Activation of Antagonistic Muscles

et al. 2015

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“…It is interesting, however, to contrast this with Duane syndrome studies, in which a predominance of female patients and left eye involvement has been reported. 25,26 One case of left-sided Duane syndrome with MG has been reported in a female patient. 27 To our knowledge, this is the first report of a genetic association for MG and expands our knowledge of the genetic and phenotypic heterogeneity of CFEOM.…”

Section: Commentmentioning

confidence: 98%

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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“…Duane anomaly is associated with other features including hearing loss in 10-20% [Shauly et al, 1993;Marshman et al, 2000]. Other reported associated abnormalities include cleft palate, rib anomalies, Chiari 1 malformation, Marcus-Gunn phenomenon, ocular dermoids, and hypoplasia of the optic discs.…”

Section: Introductionmentioning

confidence: 96%

A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome

McCann¹,

Fryer²,

Newman

et al. 2005

American J of Med Genetics Pt A

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A two-generation family is reported in which three members have Duane anomaly and distal limb abnormalities. All three affected have photopic electroretinogram responses that are abnormal or at the lower limit of the normal range with normal scotopic responses. Two affected family members also have hearing loss. The likeliest diagnosis is the syndrome listed as "arthrogryposis-ophthalmoplegia syndrome" on the London Dysmorphology Database or as "arthrogryposis with oculomotor limitation and electroretinal abnormalities" or "oculomelic aplasia" in OMIM [MIM 108145]. In view of the similarities with Okihiro syndrome, a search for mutations within the SALL4 gene was undertaken, but none were identified.

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Congenital anomalies in patients with Duane retraction syndrome and their relatives

Cited by 41 publications

References 10 publications

α2-Chimaerin Is Required for Eph Receptor-Class-Specific Spinal Motor Axon Guidance and Coordinate Activation of Antagonistic Muscles

α2-Chimaerin Is Required for Eph Receptor-Class-Specific Spinal Motor Axon Guidance and Coordinate Activation of Antagonistic Muscles

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

A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis‐ophthalmoplegia syndrome

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