Interstitial 1p36 Deletion Syndrome Encompassing <i>CAMTA1</i> Gene: A Case Report

Deletion of chromosome 1p36 encompassed various genes; however, the role of the <em>CAMTA1</em> gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with <em>CAMTA1</em> as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and <em>CAMTA1 </em>intragenic deletion, including intellectual disability/developmental delay, behavior abnormalities, hypotonia, eye problems, and movement disorder. Based on previous studies, our case showed that haploinsufficiency in the first three exons of <em>CAMTA1</em> in the CG-1 domain gave rise to movement disorders. Regular follow-up and rehabilitation are paramount to improving a patient’s quality of life. Furthermore, parental testing is warranted to determine parental origin and assist in reproductive and genetic counseling.