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Interstitial 1p36 Deletion Syndrome Encompassing CAMTA1 Gene: A Case Report

Year: 2025

Type: article

Abstract: 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.

Source: OBM Genetics

DOI: 10.21926/obm.genet.2501284

Authors: Nydia Rena Benita Sihombing, Nani Maharani, Agustini Utari, Tri Indah Winarni

Institution: Diponegoro University

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: Universitas Diponegoro