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

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.

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