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Brief Report

Prenatal CFAP53-related laterality defect: case report and review of the literature

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Article: 2201653 | Received 04 May 2022, Accepted 06 Apr 2023, Published online: 11 Apr 2023

References

  • Monkam CY, Kemeny S, Miret A, et al. A case which further refines the critical region for 15q25.2 microduplication phenotypes. Acta Neurol Belg. 2016;116(4):683–685.
  • Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans [published correction appears in nature [published correction appears in nature. 2021;597(7874):E3-E4]. Nature. 2020;581(7809):434–443.
  • Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062–D1067.
  • Rentzsch P, Schubach M, Shendure J, et al. CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Med. 2021;13(1):31.
  • Richards S, Aziz N, Bale S, 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. 2015;17(5):405–424.
  • Levin M, Johnson RL, Stern CD, et al. A molecular pathway determining left right asymmetry in chick embryogenesis. Cell. 1995;82(5):803–814.
  • Uhlén M, Fagerberg L, Hallström BM, et al. Proteomics. Tissue based map of the human proteome. Science. 2015;347(6220):1260419.
  • Pagán-Westphal SM, Tabin CJ. The transfer of left-right positional information during chick embryogenesis. Cell. 1998;93(1):25–35.
  • Psychoyos D, Stern CD. Restoration of the organizer after radical ablation of Hensen’s node and the anterior primitive streak in the chick embryo. Development. 1996;122(10):3263–3273.
  • Narasimhan V, Hjeij R, Vij S, et al. Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. Hum Mutat. 2015;36(3):307–318.
  • Perles Z, Cinnamon Y, Ta-Shma A, et al. A human laterality disorder associated with recessive CCDC11 mutation. J Med Genet. 2012;49(6):386–390.
  • Noël ES, Momenah TS, Al-Dagriri K, et al. A zebrafish loss-of-Function model for human CFAP53 mutations reveals its specific role in laterality organ function. Hum Mutat. 2016;37(2):194–200.
  • Silva E, Betleja E, John E, et al. Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry. Mol Biol Cell. 2016;27(1):48–63.
  • Bolkier Y, Barel O, Marek-Yagel D, et al. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects. J Med Genet. 2022;59(7):691–696.
  • Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases. Europace. 2022;24(8):1307–1367.