TY  - JOUR
AU  - Sihombing, Nydia Rena Benita
AU  - Maharani, Nani
AU  - Utari, Agustini
AU  - Winarni, Tri Indah
PY  - 2025
DA  - 2025/02/05
TI  - Interstitial 1p36 Deletion Syndrome Encompassing <i>CAMTA1</i> Gene: A Case Report
JO  - OBM Genetics
SP  - 284
VL  - 09
IS  - 01
AB  - Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 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 CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 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 CAMTA1 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.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2501284
DO  - 10.21926/obm.genet.2501284
ID  - Sihombing2025
ER  -