Comprehensive clinical and genetic characterization of Bardet-Biedl Syndrome: insights from the largest Turkish cohort

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. https://doi.org/10.1038/nmeth0410-248

Article  CAS  PubMed  PubMed Central  Google Scholar 

Auton A, Abecasis GR, Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C (2015) A global reference for human genetic variation. Nature 526(7571):68–74. https://doi.org/10.1038/nature15393

Article  CAS  PubMed  Google Scholar 

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36(6):437–446

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 34(2):92–98. https://doi.org/10.1136/jmg.34.2.92

Article  CAS  PubMed  PubMed Central  Google Scholar 

Campos LN, Rudzinski IV, Pintos GO, Curto S, Maximowicz SM, Gerk A, Rivera ID, Zelcer FF, Stegmann C, Argüelles CF, Stegmann J (2025) Screening, diagnostic, and monitoring approaches of Bardet-Biedl syndrome: a scoping review. Rare 3:100092

Article  Google Scholar 

Castro-Sanchez S, Alvarez-Satta M, Corton M, Guillen E, Ayuso C, Valverde D (2015) Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. J Med Genet 52(8):503–513. https://doi.org/10.1136/jmedgenet-2015-103099

Article  CAS  PubMed  Google Scholar 

Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S (2018) Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. Indian J Med Res 147(2):177–182. https://doi.org/10.4103/ijmr.IJMR_1822_15

Article  CAS  PubMed  PubMed Central  Google Scholar 

Choi Y, Chan AP (2015) PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics 31(16):2745–2747. https://doi.org/10.1093/bioinformatics/btv195

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coban-Akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Bozkurt-Yozgatli T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR (2024) The impact of the Turkish population variome on the genomic architecture of rare disease traits. Genet Med Open 2:101830. https://doi.org/10.1016/j.gimo.2024.101830

Article  PubMed  PubMed Central  Google Scholar 

Denniston AK, Beales PL, Tomlins PJ, Good P, Langford M, Foggensteiner L, Williams D, Tsaloumas MD (2014) Evaluation of visual function and needs in adult patients with Bardet-Biedl syndrome. Retina 34(11):2282–2289. https://doi.org/10.1097/IAE.0000000000000222

Article  PubMed  Google Scholar 

Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D (2024) Bardet-biedl syndrome improved diagnosis criteria and management: inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet 32(11):1347–1360. https://doi.org/10.1038/s41431-024-01634-7

Article  PubMed  PubMed Central  Google Scholar 

Ece Solmaz A, Onay H, Atik T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, Bas VN, Hazan F, Kirbiyik O, Ozkinay F (2015) Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Eur J Med Genet 58(12):689–694. https://doi.org/10.1016/j.ejmg.2015.10.011

Article  PubMed  Google Scholar 

Gao S, Zhang Q, Ding Y, Wang L, Li Z, Hu F, Yao RE, Yu T, Chang G, Wang X (2024) Molecular and phenotypic characteristics of Bardet-biedl syndrome in Chinese patients. Orphanet J Rare Dis 19(1):149. https://doi.org/10.1186/s13023-024-03150-9

Article  PubMed  PubMed Central  Google Scholar 

Gonzalez-Del Pozo M, Mendez-Vidal C, Santoyo-Lopez J, Vela-Boza A, Bravo-Gil N, Rueda A, Garcia-Alonso L, Vazquez-Marouschek C, Dopazo J, Borrego S, Antinolo G (2014) Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med 2(2):124–133. https://doi.org/10.1002/mgg3.50

Article  CAS  PubMed  Google Scholar 

Gumus E, Tuncez E, Oz O, Saka Guvenc M (2021) Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Ann Hum Genet 85(1):27–36. https://doi.org/10.1111/ahg.12401

Article  CAS  PubMed  Google Scholar 

Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel J-L, Cossée M, Dollfus H (2005) Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 13(5):607–616. https://doi.org/10.1038/sj.ejhg.5201372

Article  CAS  PubMed  Google Scholar 

Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T (2009) A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. Br J Ophthalmol 93(3):409–413. https://doi.org/10.1136/bjo.2007.131110

Article  PubMed  Google Scholar 

Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, Darbandi SF, Knowles D, Li YI, Kosmicki JA, Arbelaez J, Cui W, Schwartz GB, Chow ED, Kanterakis E, Gao H, Kia A, Batzoglou S, Sanders SJ, Farh KK-H (2019) Predicting splicing from primary sequence with deep learning. Cell 176(3):535-548.e524. https://doi.org/10.1016/j.cell.2018.12.015

Article  CAS  PubMed  Google Scholar 

Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141(7):1208–1219. https://doi.org/10.1016/j.cell.2010.05.015

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434–443. https://doi.org/10.1038/s41586-020-2308-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Attie-Bitach T (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 76(3):493–504. https://doi.org/10.1086/428679

Article  CAS  PubMed  PubMed Central  Google Scholar 

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR (2002) BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet 71(1):22–29. https://doi.org/10.1086/341031

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khan S, Focsa IO, Budisteanu M, Stoica C, Nedelea F, Bohiltea L, Caba L, Butnariu L, Panzaru M, Rusu C, Jurca C, Chirita-Emandi A, Banescu C, Abbas W, Sadeghpour A, Baig SM, Balgradean M, Davis EE (2023) Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. Am J Med Genet A 191(9):2376–2391. https://doi.org/10.1002/ajmg.a.63322

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers N, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM (2018) Genetic obesity: next-generation sequencing results of 1230 patients with obesity. J Med Genet 55(9):578–586. https://doi.org/10.1136/jmedgenet-2018-105315

Article  CAS  PubMed  Google Scholar 

Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, Helle S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H (2012) Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet-Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet 49(5):317–321. https://doi.

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