RT Journal Article
SR Electronic
T1 Deletion of chromosome 12q21 affecting <em>KCNC2</em> and <em>ATXN7L3B</em> in a family with neurodevelopmental delay and ataxia
JF Journal of Neurology, Neurosurgery &amp; Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP jnnp-2012-304555
DO 10.1136/jnnp-2012-304555
A1 Sanjeev Rajakulendran
A1 Joanna Roberts
A1 Martin Koltzenburg
A1 Michael G Hanna
A1 Helen Stewart
YR 2013
UL http://jnnp.bmj.com/content/early/2013/03/08/jnnp-2012-304555.abstract
AB 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.