ClinVar

In affected members of a family with cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA; 614756), Thevenon et al. (2012) identified a heterozygous 81-kb deletion in the DNA-binding CG1 domain of the CAMTA1 gene, resulting in the deletion of exon 4, a frameshift, and premature termination. The deletion was identified using array CGH, and the effects were confirmed by analysis of mRNA from patient fibroblasts. In this family, 2 adult half sisters had mild mental retardation, attended schools for special needs, and worked at simple jobs. Both had ataxic gait with static instability; 1 had mild intention tremor. Brain MRI of both women showed mild hippocampal atrophy, simplified gyration of the dentate gyri, posterior cortical atrophy, and cerebellar atrophy. PET scan of 1 woman showed hypometabolism of several cerebral brain regions. One of the women had 2 affected sons, and the other had 3 affected children. All patients had mental retardation, usually with delayed psychomotor development, and all had gait instability or frank ataxia. More variable features included strabismus, infantile hypotonia, delayed speech, and myoclonic seizures of the upper arm (1 patient). Some patients had mild dysmorphic facial features. The mother of the women reportedly had mild intellectual disability.