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Background: Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology among these disorders is defective ciliary functions or formation. Many different genes have been implicated in the pathogenesis of these diseases, but some patients still remain unclear about their genotypes.

Methods: The aim of this study was to identify the genetic causes in patients with syndromic ciliopathy. Patients suspected of or meeting clinical diagnostic criteria for any type of syndromic ciliopathy were recruited at a single diagnostic medical center in Southern Taiwan. Whole exome sequencing (WES) was employed to identify their genotypes and elucidate the mutation spectrum in Taiwanese patients with syndromic ciliopathy. Clinical information was collected at the time of patient enrollment.

Results: A total of 14 cases were molecularly diagnosed with syndromic ciliopathy. Among these cases, 10 had Bardet-Biedl syndrome (BBS), comprising eight BBS2 patients and two BBS7 patients. Additionally, two cases were diagnosed with Alström syndrome, one with Oral-facial-digital syndrome type 14, and another with Joubert syndrome type 10. A total of 4 novel variants were identified. A recurrent splice site mutation, BBS2: c.534 + 1G > T, was present in all eight BBS2 patients, suggesting a founder effect. One BBS2 patient with homozygous c.534 + 1G > T mutations carried a third ciliopathic allele, TTC21B: c.264_267dupTAGA, a nonsense mutation resulting in a premature stop codon and protein truncation.

Conclusions: Whole exome sequencing (WES) assists in identifying molecular pathogenic variants in ciliopathic patients, as well as the genetic hotspot mutations in specific populations. It should be considered as the first-line genetic testing for heterogeneous disorders characterized by the involvement of multiple genes and diverse clinical manifestations.

Titel:	Syndromic ciliopathy: a taiwanese single-center study.
Autor/in / Beteiligte Person:	Pan, YW ; Ou, TY ; Chou, YY ; Kuo, PL ; Hsiao, HP ; Chiu, PC ; Lin, JL ; Lo, FS ; Wang, CH ; Chen, PC ; Tsai, MC
Link:	Full Text Finder (Volltext)
Zeitschrift:	BMC medical genomics, Jg. 17 (2024-04-26), Heft 1, S. 106
Veröffentlichung:	London : BioMed Central, 2024
Medientyp:	academicJournal
ISSN:	1755-8794 (electronic)
DOI:	10.1186/s12920-024-01880-0
Schlagwort:	Humans Male Female Taiwan Child Child, Preschool Mutation Exome Sequencing Bardet-Biedl Syndrome genetics Adolescent Infant Abnormalities, Multiple genetics Retina pathology Syndrome Cilia pathology Cilia genetics Eye Abnormalities genetics Ciliopathies genetics Retina abnormalities Cerebellum abnormalities Proteins Kidney Diseases, Cystic
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't Language: English [BMC Med Genomics] 2024 Apr 26; Vol. 17 (1), pp. 106. <i>Date of Electronic Publication: </i>2024 Apr 26. MeSH Terms: Ciliopathies* / genetics ; Proteins* ; Kidney Diseases, Cystic* ; Retina / abnormalities ; Cerebellum / abnormalities ; Humans ; Male ; Female ; Taiwan ; Child ; Child, Preschool ; Mutation ; Exome Sequencing ; Bardet-Biedl Syndrome / genetics ; Adolescent ; Infant ; Abnormalities, Multiple / genetics ; Retina / pathology ; Syndrome ; Cilia / pathology ; Cilia / genetics ; Eye Abnormalities / genetics References: Front Cell Dev Biol. 2021 Jun 15;9:647391. (PMID: 34211969) ; Nat Genet. 2011 Mar;43(3):189-96. (PMID: 21258341) ; Int J Mol Med. 2021 Sep;48(3):. (PMID: 34278440) ; Sci Rep. 2016 Apr 20;6:24083. (PMID: 27094867) ; Nucleic Acids Res. 2001 Jan 1;29(1):308-11. (PMID: 11125122) ; J Pediatr Genet. 2017 Mar;6(1):18-29. (PMID: 28180024) ; Orphanet J Rare Dis. 2007 Dec 21;2:49. (PMID: 18154657) ; Hum Mutat. 2009 Jul;30(7):E737-46. (PMID: 19402160) ; Nucleic Acids Res. 2003 Jul 1;31(13):3812-4. (PMID: 12824425) ; Cell. 2010 Jun 25;141(7):1208-19. (PMID: 20603001) ; Cell Genom. 2022 Oct 12;2(11):100197. (PMID: 36776991) ; PLoS One. 2015 Sep 01;10(9):e0136317. (PMID: 26325687) ; Genome Res. 2010 Sep;20(9):1297-303. (PMID: 20644199) ; Nature. 2020 May;581(7809):434-443. (PMID: 32461654) ; Cell Rep. 2014 Jul 10;8(1):1-9. (PMID: 24981858) ; Nat Protoc. 2010 Apr;5(4):725-38. (PMID: 20360767) ; Bioinformatics. 2015 Aug 15;31(16):2745-7. (PMID: 25851949) ; Front Cell Dev Biol. 2021 Mar 11;9:635216. (PMID: 33777945) ; Dev Cell. 2010 Mar 16;18(3):410-24. (PMID: 20230748) ; Eur J Hum Genet. 2013 Jan;21(1):8-13. (PMID: 22713813) ; Am J Med Genet A. 2021 Aug;185(8):2409-2416. (PMID: 34132027) ; J Mol Med (Berl). 2019 Jan;97(1):1-17. (PMID: 30421101) ; NPJ Genom Med. 2022 Jul 14;7(1):41. (PMID: 35835773) ; N Engl J Med. 2011 Apr 21;364(16):1533-43. (PMID: 21506742) ; Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3487-95. (PMID: 16877420) ; Nucleic Acids Res. 2010 Sep;38(16):e164. (PMID: 20601685) ; Eur J Hum Genet. 2018 Dec;26(12):1797-1809. (PMID: 30097616) ; J Am Soc Nephrol. 2004 Oct;15(10):2556-68. (PMID: 15466260) ; Eur J Hum Genet. 2012 Apr;20(4):420-7. (PMID: 22353939) ; Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) ; Mol Syndromol. 2014 Feb;5(2):51-6. (PMID: 24715851) ; Eur J Hum Genet. 2007 Dec;15(12):1193-202. (PMID: 17940554) ; Cell Motil Cytoskeleton. 2007 Dec;64(12):906-13. (PMID: 17896340) ; Mol Biol Cell. 2010 Nov 1;21(21):3617-29. (PMID: 20844083) ; Hum Mol Genet. 2003 Jul 15;12(14):1651-9. (PMID: 12837689) ; Cell Cycle. 2012 Oct 15;11(20):3861-75. (PMID: 22983010) ; Science. 2001 Sep 21;293(5538):2256-9. (PMID: 11567139) ; Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. (PMID: 26940125) ; Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894. (PMID: 30371827) ; Nat Methods. 2014 Apr;11(4):361-2. (PMID: 24681721) ; Pediatr Nephrol. 2023 Feb;38(2):605-609. (PMID: 35695966) ; Nature. 2015 Oct 1;526(7571):68-74. (PMID: 26432245) ; Mol Biol Cell. 2021 Dec 1;32(22):br13. (PMID: 34613793) ; Nat Methods. 2010 Apr;7(4):248-9. (PMID: 20354512) ; Front Genet. 2018 Apr 18;9:110. (PMID: 29720996) ; Bioinformatics. 2010 Nov 15;26(22):2867-73. (PMID: 20926424) ; Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):57-71. (PMID: 35112477) Contributed Indexing: Keywords: Alström syndrome; Bardet-biedl syndrome; Ciliopathy; Joubert syndrome; Oral-facial-digital syndrome; Whole exome sequencing Substance Nomenclature: 0 (Bbs2 protein, human) ; 0 (Proteins) SCR Disease Name: Agenesis of Cerebellar Vermis Entry Date(s): Date Created: 20240426 Date Completed: 20240427 Latest Revision: 20240429 Update Code: 20240429 PubMed Central ID: PMC11046915

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Syndromic ciliopathy: a taiwanese single-center study.