title: Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
abstract: 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.
authors.affiliation: MRC Centre for Neuromuscular Diseases and UCL, Institute of Neurology, , London, UK.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Rajakulendran
authors.forename: Joanna
authors.initials: J
authors.lastname: Roberts
authors.forename: Martin
authors.initials: M
authors.lastname: Koltzenburg
authors.forename: Michael G
authors.initials: MG
authors.lastname: Hanna
authors.forename: Helen
authors.initials: H
authors.lastname: Stewart
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D004576:Electromyography; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D051670:Shaw Potassium Channels / Q000235:genetics*; D014157:Transcription Factors
chemical_list: C527169:ATXN7L3 protein, human; C489596:KCNC2 protein, human; D051670:Shaw Potassium Channels; D014157:Transcription Factors
keywords: Cerebellar Ataxia; Genetics; Paediatric Neurology