Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia

J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1255-7. doi: 10.1136/jnnp-2012-304555. Epub 2013 Mar 9.

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.

Keywords: Cerebellar Ataxia; Genetics; Paediatric Neurology.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics*
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12 / genetics*
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Electromyography
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Language Development Disorders / diagnosis
  • Language Development Disorders / genetics
  • Learning Disabilities / diagnosis
  • Learning Disabilities / genetics
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Phenotype
  • Sequence Analysis, DNA
  • Shaw Potassium Channels / genetics*
  • Transcription Factors

Substances

  • ATXN7L3 protein, human
  • KCNC2 protein, human
  • Shaw Potassium Channels
  • Transcription Factors