Duane's retraction syndrome and juvenile Batten's disease: A new association?

Marshman, WE; Jp, Lee; Jones, Bethany F.; Schalit, G.; Holder, GE

doi:10.1111/j.1442-9071.1998.tb01321.x

Cited by 8 publications

(3 citation statements)

References 3 publications

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“…In two patients esotropia was accompanied by a bilateral abduction deficit pointing to a Duane's retraction syndrome (DRS). The association between DRS and JNCL has been reported before (13). The ERG defines the retinal disease as a rod-cone dystrophy although the typical bull's eye maculopathy, which is often seen in cone and macular dystrophies, could also be observed in these patients.…”

Section: Discussionmentioning

confidence: 93%

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

et al. 2009

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The juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease, MIM 204200), is an autosomal recessive lysosomal storage disease, which is characterized by ubiquitous accumulation of the lipopigment material ceroid-lipofuscin. It manifests with loss of vision in childhood due to retinal degeneration, followed by seizures and parkinsonism leading to premature death at around 30 years. Eighty-five percent of JNCL patients carry a disease-causing 1.02 kb deletion in the CLN3 gene on chromosome 16. Here we report on a large consanguineous Lebanese family with five affected siblings. Electron microscopy of lymphocytes revealed the presence of fingerprint profiles suggesting JNCL. However, disease progression, especially of mental and motor function was slower as expected for 'classic' JNCL. We thus confirmed the diagnosis by genetic testing and found a new c.597C>A transversion in exon 8, homozygous in all affected family members and not present in 200 alleles of normal controls. The mutation generates a premature termination codon (p.Y199X) truncating the CLN3 protein by 55%. In heterozygous state mutant mRNA transcripts are expressed at the same levels as the wild-type ones, suggesting the absence of nonsense mediated messenger decay. We discuss a potential residual catalytic function of the truncated protein as a cause for the mild phenotype.

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Section: Discussionmentioning

confidence: 93%

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

et al. 2009

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“…An autosomal recessive pattern of inheritance for Duane’s syndrome has been suggested in several reports. Autosomal recessive Duane’s syndrome can occur either in isolation ( Discepola et al ., 1987 ) or in association with other abnormalities such as juvenile neuronal ceroid lipofuscinosis ( Marshman et al ., 1998 ) or in combination with developmental delay, partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter degeneration, macrocrania, hypertelorism and an ectopic ureter ( Jonas et al ., 1997 ), or in association with atrial septal defect, bilateral vesico‐urethral reflux, microcephaly and mental retardation ( Stoll et al ., 1994 ).…”

Section: Familial and Environmental Factorsmentioning

confidence: 99%

Duane’s syndrome

Gutowski

2000

Euro J of Neurology

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Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development.

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“…DRS can be associated with other nonocular anomalies, such as Klippel-Feil anomaly, Wildervank syndrome, Goldenhar syndrome (Pfaffenbach et al 1972), Rubinstein-Taybi syndrome (Cruz et al 1995), and Batten disease (Marshman et al 1998). Three karyotypic abnormalities, associated with chromosomes 4, 8, and 22, have been found in patients with DRS; however, all three cases exhibited other ocular and nonocular problems.…”

Section: Introductionmentioning

confidence: 99%

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31

Appukuttan

Gillanders

Juo

et al. 1999

The American Journal of Human Genetics

102

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Duane retraction syndrome (DRS) is a congenital eye-movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, restricted adduction, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. DRS has a prevalence of approximately 0.1% in the general population and accounts for 5% of all strabismus cases. Undiagnosed DRS in children can lead to amblyopia, a permanent uncorrectable loss of vision. A large family with autosomal dominant DRS was examined and tested for genetic linkage. After exclusion of candidate regions previously associated with DRS, a genomewide search with highly polymorphic microsatellite markers was performed, and significant evidence for linkage was obtained at chromosome 2q31 (D2S2314 maximum LOD score 11.73 at maximum recombination fraction. 0). Haplotype analysis places the affected gene in a 17.8-cM region between the markers D2S2330 and D2S364. No recombinants were seen with markers between these two loci. The linked region contains the homeobox D gene cluster. Three of the genes within this cluster, known to participate in hindbrain development, were sequenced in affected and control individuals. Coding sequences for these genes were normal or had genetic alterations unlikely to be responsible for the DRS phenotype. Identifying the gene responsible for DRS may lead to an improved understanding of early cranial-nerve development.

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Duane's retraction syndrome and juvenile Batten's disease: A new association?

Abstract: These two abnormalities can both be inherited, but their association has not been previously documented.

Cited by 8 publications

References 3 publications

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Duane’s syndrome

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31

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