CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Hackett, Anna; Tarpey, Patrick; Licata, Andrea; Cox, James J.; Whibley, Annabel; Boyle, Jackie; Rogers, Carolyn; Grigg, John; Partington, M. W.; Stevenson, Roger E.; Tolmie, John; Turner, Gillian; Wilson, Meredith; Futreal, Andrew; Corbett, Mark; Shaw, Marie; Gécz, Jozef; Raymond, F. Lucy; Stratton, Michael R.; Schwartz, Charles E.; Abidi, Fatima

doi:10.1038/ejhg.2009.220

Cited by 112 publications

(151 citation statements)

References 41 publications

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“…2,3 Calcium/calmodulin-dependent serine protein kinase (CASK) is one of the X-linked genes associated with syndromic mental retardation. [4][5][6][7][8][9] CASK mutations identified from patients are widely distributed across the entire gene, and no hot mutation spot in CASK linked to the disorder has been identified. 7,10 The phenotypes of patients with CASK mutations also vary.…”

Section: Introductionmentioning

confidence: 99%

Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice

Huang

Hsueh

2017

JPN

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Section: Introductionmentioning

confidence: 99%

Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice

Huang

Hsueh

2017

JPN

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“…The proteins included in MAGUK family are scaffold proteins and are located at synapses in the brain. Various neurological disorders have been associated with CASK; FG syndrome (5,6), X-linked ID with/without nystagmus (7), and epileptic encephalopathy (8)(9)(10). In this study, a novel CASK mutation, c.1424G>T (p.Ser475Ile), was identified in siblings exhibiting DD with ID and/or ASD.…”

Section: Introductionmentioning

confidence: 89%

A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly

Seto

Hamazaki

Nishigaki

et al. 2017

IRDR

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“…Patients with CASK gene mutations has pontocerebellar hypoplasia, microcephaly and severe mental retardation. Cases of ataxia, nystagmus and sensorineural deafness have been described 1,4,5,8,[10][11][12] . We could observe pontocerebellar hypoplasia on the magnetic resonance imaging, as well as altered conduction of the pontomesencephalic pathways in brainstem auditory evoked potentials (AEP).…”

Section: Discussionmentioning

confidence: 99%

“…The interaction between this protein and CINAP would modulate the chromosomal structure of Tbr-1, thereby regulating its expression. Tbr-1, in turn, regulates expression in the extracellular matrix of the Reelin protein, which is responsible for neuronal migration and lamination 4,6,10 . Patients with CASK gene mutations has pontocerebellar hypoplasia, microcephaly and severe mental retardation.…”

Section: Discussionmentioning

confidence: 99%

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Hipoplasia pontocerebelosa secundaria a deleción en el gen CASK: Caso clínico

Rivas

Blanco

Torreira

et al. 2017

Rev. chil. pediatr.

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Introduction: Pontocerebellar hypoplasia (PCH) is a reduction of the size of the cerebellum and pons secondary to an alteration in its development, and can be caused by neurodegenerative diseases of genetic origin, of which there are known 10 subtypes (PCH 1-10), cortical malformations, metabolic and genetic diseases. Objective: To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X. Case report: This is a female infant of 7-month at diagnosis, without family or obstetric history of interest, head circumference at birth -1.5 standard deviations (SD). She had little weight and growth in head circumference progression. In addition, physical examination revealed no fixating gaze, hypotonia with preserved deep tendon reflexes. Progressively developed refractary seizures. Brainsteam Auditory Evoked Potential demonstrated involvement of pontomesencefphalic ways and neuroimaging Pontocerebellar hypoplasia. The genetic study (aCGH) showed heterozygous deletion on the X chromosome, affecting the CASK gene. Conclusions: Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families.

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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Cited by 112 publications

References 41 publications

Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice

Calcium/calmodulin-dependent serine protein kinase (CASK), a protein implicated in mental retardation and autism-spectrum disorders, interacts with T-Brain-1 (TBR1) to control extinction of associative memory in male mice

A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly

Hipoplasia pontocerebelosa secundaria a deleción en el gen CASK: Caso clínico

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