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Table 1 Clinical features and genetic diagnosis of patients with movement disorders

From: Exome sequencing in paediatric patients with movement disorders

Patient Sex Ethnicity Movement disorders Location Clinical course Onset Dysmorphic features Congenital anomalies Other clinical features Brain MRI features aCGH findings Variants found Inherit-
ance
ACMG classification
Cases with pathogenic or likely pathogenic variants found
12 M Chinese Dystonia Generalized Non-
progressive
Infancy  +  Mild ID, blue sclera, easy fracture Normal Not done Heterozygous CTNNB1: c.367C > T, p.(Q123*); Heterozygous COL1A1: c.343G > T, p.(G115*) (incidental finding) De novo Pathogenic
14 M Chinese Spastic paraplegia with both upper limbs involvement Generalized Progressive Infancy Periventricular white matter change Not done Heterozygous SPAST: c.1253_1255delAAG, p.(Glu418del) De novo Pathogenic
17 M Chinese Dystonia, Choreoathetosis with status dystonicus Generalized Progressive Infancy Mild to moderate ID, Rhabdomyolysis Normal Not done Heterozygous GNAO1: c.625C > T, p.(Arg209Cys) Parents’ DNA not available Likely pathogenic
19 M Chinese Spastic paraplegia Lower limbs Progressive Early child- hood Attention deficit hyperactivity disorder Periventricular white matter changes with corpus callosum thinning Not done Compound heterozygous SPG11: c.4462_4463del, p.(V1488fs) & c.1569G > A, p.(W523*) Paternal & Maternal Likely pathogenic
20 M Chinese Rigidity with parkinsonism features, Spasticity, Paroxysmal worsening of parkinsonism Generalized Non-
progressive
Birth Pulmonary stenosis Obstructive Sleep Apnoea Syndrome, Severe ID, laryngomalacia Progressive cerebellar atrophy Not done Heterozygous ATP1A3: c.954C > G, p.(Ile318Met) De novo Pathogenic
23 M Chinese Dystonia Generalized Non-
progressive
Infancy  +  Severe ID, Epilepsy Normal Normal Heterozygous PURA: c.783C > G, p.(Tyr261*) De novo Pathogenic
27 M Chinese Cerebellar ataxia, spasticity Generalized Non-
progressive
Infancy Reactive hypoglycaemia, Mild ID Normal Not done Heterozygous SLC2A1: c.388G > C, p.(Gly130Arg) # De novo Pathogenic
29 M Chinese Dystonia, Spasticity Generalized Progressive 6y Left atrophic kidney Fatty liver, Recurrent patellar dislocation, prominent capillaries Normal Not done Heterozygous KMT2B: c.2425C > T, p.(Gln809*) De novo Pathogenic
30 F Pakistani Cerebellar ataxia, spasticity, rigidity Generalized Progressive 13y Neuromuscular weakness Periventricular white matter changes with corpus callosum thinning Not done Homozygous SPG11: c.5399_5402delinsTGGAGGAG:p.(Gln1800fs) Paternal & Maternal Likely pathogenic
31 M Chinese Dystonia, spasticity Generalized Progressive Infancy Bilateral hearing impairment, autism spectrum disorder, learning problem (formal IQ not available) Normal Not done Heterozygous ACTB:
c.547C > T:p.(Arg183Trp)
De novo Pathogenic
Cases with variants of unknown significance (VUS) found
1 M Chinese Cerebellar ataxia Generalized Non-progressive 6y Limited intelligence with dementia, bipolar affective disorder Stable cerebellar atrophy Not done Heterozygous KCND3: c.1917C > A, p.(Asn639Lys) Maternal VUS
6 M Chinese Dystonia, Spasticity Generalized Non-progressive Birth  +  Mild ID, severe intrauterine growth retardation, autism spectrum disorder Right parietal lobe developmental venous anomaly Normal Compound heterozygous VPS13D: c.5300C > T, p.(Thr1767Ile) & c.8213A > C, p.(Gln2738Pro) Paternal & Maternal VUS
7 F Chinese Dystonia, Spasticity Generalized Non-progressive Birth  +  Mild ID to limited intelligence, intrauterine growth retardation Dysgenesis of corpus callosum Not done Compound heterozygous VPS13D: c.5300C > T, p.(Thr1767Ile) & c.8213A > C, p.(Gln2738Pro) Paternal & Maternal VUS
8 F Chinese Cerebellar ataxia, Spasticity Generalized Non-progressive Infancy Mild ID with dementia, Ichthyosis Progressive cerebellar atrophy Not done Heterozygous KCNC3: c.2105G > T, p.(Ser702Ile) Paternal VUS
  1. MRI  Magnetic resonance imaging; ACMG American College of Medical Genetics, VUS variant of unknown significance, y years, ID intellectual disability; IQ intelligence quotient
  2. #The family declined lumbar puncture