Akademik Veri Yönetim Sistemi
European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1328
Background/Objectives: Bardet-Biedl Syndrome (BBS) is a ciliopathy
characterized by retinitis pigmentosa, polydactyly, obesity,
renal malformation, cognitive impairment, and hypogonadism.
The syndrome’s prevalence is estimated to be 1 in 100,000 live
births. BBS is a genetically heterogeneous syndrome which is
associated with more than 20 genes. This study aims to determine
the effectiveness of multigene panel testing in patients who have
BBS clinical features and to reveal the genetic etiology of the BBS
patients.
Methods: Thirty patients having specific examination findings
related to BBS were included in this study. After evaluation of
clinical and family histories, probands were screened using a
custom-designed Bardet Biedl syndrome panel including 24 genes
via next-generation sequencing (NGS). The family members of the
probands carrying pathogenic variations were screened via
Sanger Sequencing.
Results: Among 30 cases major clinical findings were polydactyly
(n = 22)(73%), obesity (n = 16)(53%), and retinal dystrophy
(n = 13)(43%). We detected in 21 (70%) patients biallelic
pathogenic variations, of which 5 were novel, in BBS1(n = 4),
BBS9(n = 4), BBS10(n = 4), BBS4(n = 3), MKKS(n = 3), BBS7(n = 2),
ARL6(n = 1) genes.
Conclusion: The detection of 5 novel pathogenic variations has
contributed to the expansion of the mutation spectrum. Also, the
confirmation of clinical diagnosis in 70% of the patients with
molecular genetic testing supports that the screening related
genes via NGS panel is an effective diagnostic method for BBS.
Defining the molecular etiology of BBS is important in terms of
screening at-risk family members and providing appropriate
genetic counseling for preimplantation genetic diagnosis
opportunities.
Grants: None
Conflict of Interest: None declared