Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia
- 1MRC Centre for Neuromuscular Diseases and UCL, Institute of Neurology, London, UK
- 2Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford, UK
- Correspondence to Dr Helen Stewart, Oxford University Hospitals NHS Trust, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK;
- Received 9 November 2012
- Revised 9 February 2013
- Accepted 11 February 2013
- Published Online First 9 March 2013
Objective To describe the clinical and genetic findings in a family affected by neurodevelopmental delay and cerebellar ataxia.
Methods The affected mother and her two children underwent clinical assessments followed by radiological, neurophysiological and cytogenetic investigations.
Results All 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.
Conclusions This 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.