| Title: |
Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations. |
| Authors: |
Suárez-González, Julia1,2 (AUTHOR), Seidel, Verónica3 (AUTHOR), Andrés-Zayas, Cristina1,2 (AUTHOR), Izquierdo, Elvira4 (AUTHOR), Buño, Ismael1,2,5,6 (AUTHOR) ismaelbuno@gmail.com |
| Source: |
BMC Medical Genomics. 3/26/2021, Vol. 14 Issue 1, p1-5. 5p. |
| Subject Terms: |
*LAURENCE-Moon-Biedl syndrome, *GENES, *EXOMES, *RNA splicing, *THREE-dimensional modeling, *STRUCTURAL models, *CILIOPATHY |
| Abstract: |
Background: Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the advancement of molecular diagnostic tools. We report on a novel pathogenic variant in a consanguineous Pakistani family with an affected child. Case presentation: Clinical exome sequencing was used to search for BBS causing variants in the affected individual and identified a novel homozygous splice-site variant in the BBS9 gene (c.702 + 1del). Sanger sequencing was performed for variant validation and segregation studies. Expression analysis using mRNA levels to assess the functional impact of the novel variant demonstrated skipping of exon 7 in the affected alleles, suggesting a truncating effect. Three-dimensional structural modelling was used to predict pathogenicity of the variant residue and the alteration leads to a partial deletion of the PHTB1_N domain and a total deletion of the PHTB1_C domain. Conclusion: The study of this case expands the spectrum of biallelic variants in the BBS9 gene associated with BBS and increased the knowledge on the molecular consequences of splicing variation c.702 + 1del. [ABSTRACT FROM AUTHOR] |
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