Myoclonus-Dystonia Due to Maternal Uniparental Disomy

Guettard, E.; Portnoı̈, Marie-France; Lohmann-Hedrich, Katja; Keren, Boris; Rossignol, Sylvie; Winkler, Susen; Kamel, Imen El; Leu, Smaranda; Apartis, Emmanuelle; Vidailhet, Marie; Klein, Christine; Roze, Emmanuel

doi:10.1001/archneur.65.10.1380

Cited by 53 publications

(33 citation statements)

References 8 publications

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“…This is particularly interesting in light of a recent report of myoclonus-dystonia in a patient with mUPD7 29. Myoclonus-dystonia typically presents before adulthood with mild dystonia (such as cervical dystonia or writer's cramp) and/or myoclonic jerks.…”

Section: Discussionmentioning

confidence: 93%

Epigenotype-phenotype correlations in Silver-Russell syndrome

Wakeling

Amero

Alders

et al. 2010

Journal of Medical Genetics

135

164

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BackgroundSilver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5–10% and up to 60% of patients with SRS, respectively. As many features are non-specific, diagnosis of SRS remains difficult. Studies of patients in whom the molecular diagnosis is confirmed therefore provide valuable clinical information on the condition.MethodsA detailed, prospective study of 64 patients with mUPD7 (n=20) or ICR1 hypomethylation (n=44) was undertaken.Results and conclusionsThe considerable overlap in clinical phenotype makes it difficult to distinguish these two molecular subgroups reliably. ICR1 hypomethylation was more likely to be scored as ‘classical’ SRS. Asymmetry, fifth finger clinodactyly and congenital anomalies were more commonly seen with ICR1 hypomethylation, whereas learning difficulties and referral for speech therapy were more likely with mUPD7. Myoclonus-dystonia has been reported previously in one mUPD7 patient. The authors report mild movement disorders in three further cases. No correlation was found between clinical severity and level of ICR1 hypomethylation. Use of assisted reproductive technology in association with ICR1 hypomethylation seems increased compared with the general population. ICR1 hypomethylation was also observed in affected siblings, although recurrence risk remains low in the majority of cases. Overall, a wide range of severity was observed, particularly with ICR1 hypomethylation. A low threshold for investigation of patients with features suggestive, but not typical, of SRS is therefore recommended.

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Section: Discussionmentioning

confidence: 93%

Epigenotype-phenotype correlations in Silver-Russell syndrome

Wakeling

Amero

Alders

et al. 2010

Journal of Medical Genetics

135

164

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“…Evidence is emerging that patients with mUPD7 are at increased risk of developing myoclonus-dystonia 17 24. The disorder is associated with paternally derived mutations in the imprinted gene ε-sarcoglycan ( SGCE ) on chromosome 7q21.…”

Section: Genotype–phenotype Correlationmentioning

confidence: 99%

Silver-Russell syndrome

Wakeling

2011

Archives of Disease in Childhood

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Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face, asymmetry and feeding difficulties. As many of these features are non-specific, clinical diagnosis of SRS remains difficult. Hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 and maternal uniparental disomy (mUPD) for chromosome 7 are found in up to 60% and around 5-10% of patients with SRS, respectively. Patients with ICR1 hypomethylation are more likely to have classical features of SRS, including asymmetry; patients with mUPD7 are more likely to have learning difficulties, particularly speech problems, although these are usually mild. As features vary widely in severity, clinicians should have a low threshold for genetic investigation of patients with features suggestive of SRS.

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“…mUPD7 is also the likely cause of the patient’s MDS. There are two prior reports of MDS in patients with RSS caused by mUPD7 – one 36-year-old male who presented to a movement disorders clinic for evaluation of myoclonus, and one 6-year-old female with atypical RSS features 45 . In the adult, the RSS diagnosis was made during the movement disorder evaluation.…”

Section: Discussionmentioning

confidence: 99%