Resumo

LADINO, Yaqueline et al. A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome. Biomédica [online]. 2018, vol.38, n.3, pp.308-319. ISSN 0120-4157.  https://doi.org/10.7705/biomedica.v38i4.4199.

The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability.

We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature.

We collected the clinical data of the patient and, after obtaining the informed consent, we conducted a multigenic sequencing panel oriented to known implicated genes.

The patient was born to consanguineous parents and was the first affected member of the family. He presented with postaxial polydactyly, obesity, micropenis, retinitis pigmentosa, and learning disability.

The multigenic panel allowed the identification of the homozygous pathogenic variant c.39_46del in the BBS10 gene and in other BBS genes variants associated with obesity. As the Bardet-Biedl syndrome is a rare disease, it is challenging to interpret its pleiotropism and gene/allelic heterogeneity. Its confirmation by molecular tests allows an adequate approach, follow-up, and genetic counseling of the patient and the family.

Palavras-chave : Bardet-Biedl syndrome; polydactyly; obesity; retinitis pigmentosa; intellectual disability; cilia.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )