Homozygous DEAF1 mutation with developmental delay, microcephaly, and optic atrophy – A case report

Significant developmental difficulties are frequently caused by neurodevelopmental diseases, which are frequently brought on by environmental causes and genetic mutations. The DEAF1 gene is associated with serious neurological disorders and is essential for brain development. The purpose of this study is to investigate the potential effects of a homozygous mutation in the DEAF1 gene on developmental delays, specifically in consanguineous families, using the example of a 1.5-year-old boy. A harmful mutation in the DEAF1 gene (c.1051C>T p.(Arg351Ter)) was discovered by genetic research. The child had generalized epileptic activity, optic atrophy, microcephaly, and global developmental delay. There was no discernible developmental improvement even after getting antiepileptic medication, occupational therapy, and physical therapy. Similar developmental difficulties were also shown by a first cousin, suggesting a close genetic connection. Genetic testing and thorough neurological examinations were among the evaluations. The difficulties in treating neurodevelopmental abnormalities linked to the DEAF1 gene are highlighted by this example. The particular mutation emphasizes how important it is for developmental outcomes. The results highlight the value of preventive testing and genetic counseling in consanguineous relationships. Because of the severity of the mutation, the prognosis is still unknown even after intensive multidisciplinary care. All things considered, this instance highlights the need for more research in this field and offers insightful information on how DEAF1 mutations affect neurodevelopmental diseases. • A 1.5-year-old boy presented with global developmental delay and a homozygous DEAF1 mutation. • The clinical presentation consisted of microcephaly, optic atrophy, hypotonia and generalized epileptic activity. • This hypothesis was confirmed by MRI which displayed hypoplastic corpus callosum. • One of her first cousins has similar neurodevelopmental delay, which makes hereditary correlation strong. • Case underlines the urgency of genetic counseling and preventive testing in consanguinity families at an early stage.