Duane's Retraction Syndrome Associated With Chromosome 4q27-31 Segment Deletion

doi:10.1016/S0002-9394(14)72795-3

American Journal of Ophthalmology

Volume 119, Issue 6, June 1995, Pages 807-809

https://doi.org/10.1016/S0002-9394(14)72795-3 Get rights and content

Purpose/Method

A 15-year-old boy with bilateral blepharoptosis, bilateral type 1 Duane's retraction syndrome, and mild learning difficulties underwent chromosomal analysis.

Results/Conclusions

A de novo deletion of a segment of the long arm of chromosome 4 (4q27-31) was found. To our knowledge, no other individuals with this chromosome deletion have Duane's retraction syndrome. The chromosome defect lies close to the epidermal growth factor gene, 4q25, which was recently linked to Rieger's syndrome. We suggest that families with Duane's retraction syndrome should be assessed for linkage to the area of 4q27-31.

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Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22
Am J Med Genet
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There are more references available in the full text version of this article.

Cited by (35)

Eye Movement Disorders: Third, Fourth, and Sixth Nerve Palsies and Other Causes of Diplopia and Ocular Misalignment
2018, Liu, Volpe, and Galetta's Neuro-Ophthalmology: Diagnosis and Management
This chapter will cover the diagnosis and management of the causes of double vision and ocular misalignment. Although the bulk of the discussion will concentrate on third, fourth, and sixth nerve palsies, other supranuclear, nuclear, neuromuscular junction, myopathic, and restrictive disorders will be detailed or alluded to. The relevant anatomy of the ocular motor system will be discussed first, followed by signs and symptoms in patients with diplopia, then the diagnosis and management. The differential diagnosis of the major entities that cause diplopia will then be reviewed.
CHN1 gene mutation analysis in patients with Duane retraction syndrome
2017, Journal of AAPOS
To investigate CHN1 (chimerin 1) gene mutations in patients with isolated nonsyndromic Duane syndrome and accompanying positive familial history, bilaterality, or various systemic disorders.
Patients with Duane retraction syndrome (DRS) and a positive family history of congenital ocular motility disturbance or bilateral involvement or accompanying any congenital disorder(s) seen consecutively at a single center from 2013 to 2016 were enrolled. All subjects underwent full ophthalmologic examination, including refraction, best-corrected visual acuity, ocular alignment and motility, globe retraction, and biomicroscopic or fundus evaluation. DNA samples were investigated by direct sequencing of the coding regions of the CHN1 gene.
A total of 30 patients (15 males) were included (mean age, 11.8 ± 10.4 years; range, 2-45 years): 8 cases presented with bilateral DRS; 22, with unilateral DRS. Family history of ocular motility abnormality was positive in 16 patients. Eleven cases had an additional congenital disorder. In 2 patients, 2 different mutations were detected in the CHN1 gene: p.E313K (c.937G>A) and p.N224S (c.671A>G).
CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. Additional genetic studies evaluating chimerin 1 (CHN1) and its role in the development of the ocular motor axis are needed to provide new data about these mutations and phenotypic variations.
Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
2013, European Journal of Medical Genetics
Citation Excerpt :
The authors used the location of their patient's deletion to help map the locus of the GYPA gene which determines MN blood type. There were subsequently many reports of patients with cytogenetically visible 4q interstitial deletions overlapping with bands 4q27 and 4q28 [3–7,9–12]. These cases were reported before the microarray era and are, therefore, not as well characterized and difficult to compare to the deletion found in our family.
Deletions of the long arm of chromosome 4 are rare but have been previously reported to be associated with craniofacial anomalies, digital anomalies, developmental delay, growth failure, and cardiovascular anomalies [1], [2], [3], [4], [5], [6]. Strehle et al. [1] previously presented 20 patients with 4q deletions and began to construct a phenotype–genotype map for chromosome 4q. This report follows up on that work by providing clinical and molecular cytogenetic data on a three generation pedigree including seven patients with short stature, dysmorphic features, and developmental delay identified to have a 4q27-q28.1 microdeletion of approximately 5.68 Mb by oligonucleotide chromosomal microarray. This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported [7], [8]. The contribution of candidate genes in the region is discussed.
Duane syndrome in association with 48,XXYY karyotype
2011, Journal of AAPOS
Citation Excerpt :
Duane syndrome has been associated with deletions, duplications, and translocations of chromosomal material (e-Supplement 1, available at jaapos.org). Chromosomal deletions associated with Duane syndrome have been reported with chromosomes 1, 4, 8, and 22.2,4-6 Trisomy of portions of chromosome 2, 8, 10, and 22 also has been associated with Duane syndrome.2,7
Duane syndrome is an ocular motility disorder consisting of deficient horizontal eye movements, eyelid retraction, palpebral fissure narrowing, and abnormal vertical eye movements. It occurs in 1%-5% of patients with strabismus and has also been reported in several syndromes and chromosome abnormalities. Although most cases are sporadic, autosomal-dominant inheritance is seen in up to 10% of cases. Recently, Duane syndrome has been reported to occur in the setting of chromosomal duplication. The 48,XXYY syndrome is a rare syndrome involving duplication of the sex chromosomes. Ocular abnormalities are not typical of this condition. We report the first case of Duane syndrome presenting in an 8-month-old boy with XXYY syndrome. This case lends further support to the association of chromosomal duplication and Duane syndrome.
Duane syndrome in the setting of chromosomal duplications
2010, American Journal of Ophthalmology
Citation Excerpt :
There have been families and individual patients in whom Duane syndrome is associated with other clinical and chromosomal findings. A de novo deletion of 4q27-31 was found in a patient with bilateral Duane's syndrome, bilateral blepharoptosis, and mild learning difficulties.16 A single case of bilateral Duane syndrome in conjunction with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and FOXL2 mutation has been described.23
To describe the clinical findings in 3 patients with Duane syndrome and 3 different chromosomal duplications that may indicate the location of genes involved in the pathogenesis of this ocular motility disorder.
Observational case series.
setting: Clinical practice. patient or study population: Three patients with Duane syndrome and chromosomal duplications from the clinical practice of 1 of the authors. observation procedures: Chart review and retrieval of clinical data and results of pertinent clinical tests, in this case chromosomal studies. main outcome measure: Reporting of details of clinical findings and duplicated chromosomal regions.
Two patients had unilateral type I Duane syndrome and 1 had bilateral type I Duane syndrome. Two had cognitive delay, and all 3 had other systemic abnormalities, including a variety of congenital malformations. The chromosomal abnormalities that were detected using microarray analysis were 2q13(RP11-20G1,RP11-461N11) × 3, 10q24.2q26.3(101,532,585-135,284, 169) × 3, 20q13.12(44,796,613-44,945, 818) × 3, and 22q11.1q11.22(RP11-701M12, RP11-71G19) × 3.
Patients with Duane syndrome and associated congenital malformations or developmental delay should be evaluated for the presence of underlying chromosomal duplications. The regions of chromosomes 2, 10, and 22 that we report may harbor genes involved in the pathogenesis of Duane syndrome.
Familial ptotic lid elevation during ipsilateral abduction
2004, Journal of AAPOS
To report and discuss the clinical findings of a 17-member family with 2 siblings who exhibit ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction.
Sixteen members of the 17-member immediate family underwent ophthalmic examination.
Two siblings exhibited ptosis and abnormal synkinetic lid elevation associated with ipsilateral abduction. One was bilaterally affected and the other had unilateral findings. A third sibling had isolated bilateral congenital ptosis. A fourth demonstrated classic Duane syndrome Type I in the right eye. Other family members did not have ophthalmic abnormalities.
A unifying mechanism of congenital cranial dysinnervation may underlie these and similar phenotypes of oculomotor and/or abducens nerve abnormalities with or without abnormal synkinesis.

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¹: Inquiries to John F. Salmon, M.D., Oxford Eye Hospital, Radcliffe Infirmary NHS Trust, Woodstock Road, Oxford OX2 6HE, United Kingdom; fax: 44-865-224360.

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Brief ReportsDuane's Retraction Syndrome Associated With Chromosome 4q27-31 Segment Deletion

Purpose/Method

Results/Conclusions

Ophthalmoplegic syndromes and trauma

Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22

Am J Med Genet

Brief Reports
Duane's Retraction Syndrome Associated With Chromosome 4q27-31 Segment Deletion