Dados do Trabalho

Título

PRESENCE OF POINT MUTATION IN APC2 GENE IN PATIENT PRESENTING SOTOS’-LIKE FENOTYPE: A CASE REPORT.

Apresentação do caso

Six-year-old, female, daughter of nonconsanguineous parents, with normal neuropsychomotor development until her first year, with posterior developmental regression.
At the age of 2, she started having absence seizures, evolving to generalized tonic-clonic seizures.
Her phenotype exhibits a triangular face, prognathism, hypertrophic gums, and accelerated growth. Additional tests: elevated FSH, IGF-1, and IGFBP-3, bone age advancement (+3 years), cerebellar vernix hypoplasia, prominent 4th ventricle communicating with the cisterna magna on MRI, diffuse bilateral point-wave complexes on EEG. GTG karyotype 46, XX , CGH Array and panel for epilepsy and inborn errors without alterations. Complete exome sequencing showing variant of uncertain significance (VUS).
Due to the suspicion of hypergrowth syndrome, an exome test was requested, identifying a variant of uncertain in heterozygosity in APC2 gene c.5859_5888del; p.(Gly1952_Ala1961del). Although the causal relationship between such gene and Sotos syndrome, similar phenotypes with APC2 mutations have already been reported in the literature.

Discussão

In one of the reports, the patient presented difficulty in controlling seizures, his EKG demonstrated a wave-pointed pattern. Genome sequencing showed 2 distinct missense mutations in different alleles for APC2 (compound heterozygote). In another paper, a frameshift mutation in two siblings of consanguineous parents was presented, both showing intellectual disability, macrocephaly and prognathism.

Comentários finais

The APC2 gene has been described as fundamental to neurodevelopment. Although mutations in this gene have been associated with signs and symptoms that resemble Sotos syndrome, variations in it are still of uncertain significance. Therefore, the reporting of similar cases is necessary to elucidate a causal relationship between phenotype and genotype.

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Declaração de conflito de interesses de TODOS os autores

We have no conflict of interest.

Área

Neurogenética