Sporadic heterozygous frameshift mutation of BRSK2 causing neurodevelopmental disorder and optic nerve hypoplasia plus: case report
DOI:
https://doi.org/10.34024/rnc.2023.v31.15546Keywords:
BRSK2, Developmental Disabilities, Septo-Optic DysplasiaAbstract
Introduction. Septo-optic dysplasia is a syndrome diagnosed by the presence of: optic nerve hypoplasia, midline dysgenesis and pituitary hormonal changes. Case Report. A two year old female patient with obesity, short stature, delay in neuropsychomotor development, midline stereotypies, divergent strabismus and optic disc atrophy. Magnetic resonance imaging of the brain showed alterations characterizing septo-optic dysplasia plus. Generic sequencing was performed, identifying a heterozygous mutation in the BRSK2 gene at position chr11:1,443,106, with the diagnosis of Neurodevelopmental Disorder associated with the BRSK2 gene (OMIM*609236). This variant has never been described in the medical literature. Conclusion. A combination of the molecular mechanism, characteristics of the region where it is found and the correlation of this gene with clinical symptoms indicate that this variant is probably pathogenic.
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Copyright (c) 2023 Danilo de Assis Pereira, Marta Wey Vieira, Cyntia Watanabe, Marina Helena Mariano, Nathália Marcon, Leonardo Louzada Ribeiro, Julia Naomi Mazoni Sasaki
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