Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report

Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU and Khan S: Genetics of human Bardet-Biedl syndrome, an updates. Clin Genet. 90:3–15. 2016.PubMed/NCBI View Article : Google Scholar

Focșa IO, Budișteanu M, Burloiu C, Khan S, Sadeghpour A, Bohîlțea LC, Davis EE and Bălgrădean M: A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report. Biomed Rep. 15(103)2021.PubMed/NCBI View Article : Google Scholar

Forsythe E, Kenny J, Bacchelli C and Beales PL: Managing Bardet-Biedl syndrome-now and in the future. Front Pediatr. 6(23)2018.PubMed/NCBI View Article : Google Scholar

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, et al: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 38:521–524. 2006.PubMed/NCBI View Article : Google Scholar

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, et al: Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease. Hum Genet. 127:583–593. 2010.PubMed/NCBI View Article : Google Scholar

Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG and Harrison SM: ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Human mutation. 39:1517–1524. 2018.PubMed/NCBI View Article : Google Scholar

Alvarez-Satta M, Castro-Sanchez S and Valverde D: Bardet-Biedl syndrome as a chaperonopathy: Dissecting the major role of Chaperonin-Like BBS proteins (BBS6-BBS10-BBS12). Front Mol Biosci. 4(55)2017.PubMed/NCBI View Article : Google Scholar

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar

The PyMOL Molecular Graphics System. In: Delano Scientific. San Carlos, CA, 2002.

Tsang SH, Aycinena ARP and Sharma T: Ciliopathy: Bardet-Biedl syndrome. Adv Exp Med Biol. 1085:171–174. 2018.PubMed/NCBI View Article : Google Scholar

McConnachie DJ, Stow JL and Mallett AJ: Ciliopathies and the kidney: A review. Am J Kidney Dis. 77:410–419. 2021.PubMed/NCBI View Article : Google Scholar

van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, et al: CiliaCarta: An integrated and validated compendium of ciliary genes. PLoS One. 14(e0216705)2019.PubMed/NCBI View Article : Google Scholar

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, et al: Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet. 129:79–90. 2011.PubMed/NCBI View Article : Google Scholar

Mary L, Chennen K, Stoetzel C, Antin M, Leuvrey A, Nourisson E, Alanio-Detton E, Antal MC, Attié-Bitach T, Bouvagnet P, et al: Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Clin Genet. 95:384–397. 2019.PubMed/NCBI View Article : Google Scholar

Emmanuelli V, Lahoche-Manucci A, Holder-Espinasse M, Devisme L, Vaast P, Dieux-Coeslier A, Dehennault M, Petit S, Besson R and Houfflin-Debarge V: Prenatal diagnosis of hyperechogenic kidneys: A study of 17 cases. J Gynecol Obstet Biol Reprod (Paris). 39:637–646. 2010.PubMed/NCBI View Article : Google Scholar : (In French).