Partial Deletion in CUL4B Gene: A Case Report

Abstract

Disturbances in intellectual development cause great morbidity and pose a demanding challenge in the dimensions of the individual, family, and community. CUL4B is a gene involved in several cellular processes and in the control of the cell cycle. Mutations in this are associated with changes such as intellectual disability, macrocephaly, and dysmorphia, among others.
The reported case refers to a 12-year-old girl, with early identification of dysmorphia (elongated face with bitemporal narrowing and long forehead, deep-set eyes, large mouth, low-set ear pinna and indentations on the earlobe, nose with a hooked-looking tip) and delays in intellectual and psychomotor development, having identified, after genetic study, a rare disease associated with the X chromosome (deletion in Xq24 partially involving the gene CUL4B). Given its association with the X chromosome, this pathology is rare in females and its approach requires a multidisciplinary team and efficient coordination between health services. Analyzing this case, we can infer the importance of General and Family Medicine, given its characteristics and skills, in its management.