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J. Neurol. Neurosurg. Psychiatr. · Nov 2013
Case ReportsDeletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
- Sanjeev Rajakulendran, Joanna Roberts, Martin Koltzenburg, Michael G Hanna, and Helen Stewart.
- MRC Centre for Neuromuscular Diseases and UCL, Institute of Neurology, , London, UK.
- J. Neurol. Neurosurg. Psychiatr.. 2013 Nov 1;84(11):1255-7.
ObjectiveTo describe the clinical and genetic findings in a family affected by neurodevelopmental delay and cerebellar ataxia.MethodsThe affected mother and her two children underwent clinical assessments followed by radiological, neurophysiological and cytogenetic investigations.ResultsAll three affected members exhibited varying degrees of delay in attaining motor and cognitive milestones, along with learning difficulties and cerebellar ataxia. All three harboured a new 670 kb deletion of chromosome 12q21. Two genes, KCNC2 and ATXN7L3B, lie within the deleted region.ConclusionsThis family's complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for the two genes, KCNC2 and ATXN7L3B, in human neurological disease.
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