TY - JOUR
T1 - A case of bardet-biedl syndrome caused by a recurrent variant in bbs12
T2 - A case report
AU - Focșa, Ina Ofelia
AU - Budișteanu, Magdalena
AU - Burloiu, Carmen
AU - Khan, Sheraz
AU - Sadeghpour, Azita
AU - Bohîlțea, Laurențiu C.
AU - Davis, Erica E.
AU - Bălgrădean, Mihaela
N1 - Funding Information:
This study was funded by the US National Institutes of Health (grant nos. R01 HD042601, R01 DK072301 and R01 GM121317). EED is the Ann Marie and Francis Klocke, MD Research Scholar.
Publisher Copyright:
© 2021, Spandidos Publications. All rights reserved.
PY - 2021/12
Y1 - 2021/12
N2 - Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ systems. The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impair-ment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy. Of these causal loci, BBS12 accounts for ~8% of all cases. In this case report, an individual with BBS caused by a rare recurrent variant in BBS12 (NM_152618.3: c.1063C>T; p.Arg355*) is described and compared with others with the same DNA variant, placing this finding in the context of the current literature.
AB - Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogenous disorder that manifests as a result of primary cilia impairment. Cilia are present on most cell types, thus BBS is a multisystemic condition involving the majority of organ systems. The core features of the syndrome include retinal degeneration, obesity, polydactyly, cognitive impair-ment, renal anomalies and urogenital malformations. To date, pathogenic variants in 26 genes have been shown to be involved in the molecular basis of this rare ciliopathy. Of these causal loci, BBS12 accounts for ~8% of all cases. In this case report, an individual with BBS caused by a rare recurrent variant in BBS12 (NM_152618.3: c.1063C>T; p.Arg355*) is described and compared with others with the same DNA variant, placing this finding in the context of the current literature.
KW - Bardet-Biedl syndrome
KW - Chaperonin
KW - Cilia
KW - Ciliopathies
KW - Oligogenic
KW - Pleiotropy
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U2 - 10.3892/br.2021.1479
DO - 10.3892/br.2021.1479
M3 - Article
C2 - 34760276
AN - SCOPUS:85118350060
VL - 15
JO - Molecular and Clinical Oncology
JF - Molecular and Clinical Oncology
SN - 2049-9450
IS - 6
M1 - 103
ER -
