Homozygous
            <i>GNAL</i>
            mutation associated with familial childhood-onset generalized dystonia

Masuho, Ikuo; Fang, Mingyan; Geng, Chunyu; Zhang, Jianguo; Jiang, Hui; Özgül, Rıza Köksal; Yılmaz, Didem; Yalnızoğlu, Dilek; Yüksel, Deniz; Yarrow, Anna; Myers, Angela; Burn, Sabrina C.; Crotwell, Patricia L.; Padilla-López, Sergio; Dursun, Ali; Martemyanov, Kirill A.; Kruer, Michael C.

doi:10.1212/nxg.0000000000000078

Cited by 25 publications

(16 citation statements)

References 6 publications

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“…1,2 Twenty-nine pathogenic mutations have been described thus far. [2][3][4][5][6][7] We report a novel GNAL mutation presenting with teenage onset head tremor. The missense variant, c401C>T, is predicted to result in a pThr134IIE protein change with in silico evolutionary conservation analysis supporting a pathogenic role.…”

Section: Discussionmentioning

confidence: 91%

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Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene

O’Connor

Buckley

O’Sullivan

2017

Movement Disord Clin Pract

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Section: Discussionmentioning

confidence: 91%

“…The prevalence of GNAL in dystonia is estimated to be under 1% . Twenty‐nine pathogenic mutations have been described thus far . We report a novel GNAL mutation presenting with teenage onset head tremor.…”

Section: Discussionmentioning

confidence: 95%

Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene

O’Connor

Buckley

O’Sullivan

2017

Movement Disord Clin Pract

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“…In several follow‐up studies, GNAL mutations were identified as rare cause of isolated craniocervical dystonia . A homozygous GNAL missense mutation was recently identified in 2 sisters with childhood‐onset generalized dystonia and intellectual disability . The phenotype in patients with biallelic GNAL mutations seems to be more severe than in heterozygous missense mutation carriers.…”

Section: Discussionmentioning

confidence: 99%

“…17,[20][21][22] A homozygous GNAL missense mutation was recently identified in 2 sisters with childhood-onset generalized dystonia and intellectual disability. 23 The phenotype in patients with biallelic GNAL mutations seems to be more severe than in heterozygous missense mutation carriers. The whole-gene deletion of one copy of the GNAL gene in 18p-syndrome can also lead to a similar phenotype with early-onset generalized dystonia and intellectual disability.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Movement Disorders in 18p Deletion Syndrome

Crosiers

Blaumeiser

Goethem

2018

Movement Disord Clin Pract

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Background Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders. Methods The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome‐wide single‐nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders. Results We present a 41‐year‐old male patient with childhood‐onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients. Conclusion Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.

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“…Stimulatory Galpha subunit of G olf protein receptor gene GNAL mediates odorant signaling in the olfactory epithelium and is highly expressed in certain areas of the brain [Vuoristo et al, 2000;Fuchs et al, 2013]. GNAL mutations have been identified in patients with idiopathic dystonia [Fuchs et al, 2013;Dos Santos et al, 2016;Masuho et al, 2016]. However, dystonia rarely occurs among 18p deletion patient who are hemizygous for GNAL .…”

Section: Discussionmentioning

confidence: 99%

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

Sun

Wan²,

Wang³

et al. 2018

Cytogenet Genome Res

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18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions. Her neuropsychological assessment test demonstrated delay in most cognitive functions including impaired mathematics, linguistic skills, visual motor perception, respond speed, and executive function. Meanwhile, her integrated visual and auditory continuous performance test (IVA-CPT) indicated a severe comprehensive attention deficit. At age 7 and 1/12 years, her height was 110.8 cm (-2.5 SD height for age). Growth hormone (GH) treatment was initiated. After 27 months treatment, her height was increased to 129.6 cm (-1.0 SD height for age) at 9 and 4/12 years, indicating an effective response to GH treatment.

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Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Cited by 25 publications

References 6 publications

Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene

Teenage Onset Head Tremor Due to Novel Mutation in GNAL Gene

Spectrum of Movement Disorders in 18p Deletion Syndrome

Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome

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