A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

European Journal of Medical Genetics - Tập 62 - Trang 103576 - 2019
André Mégarbané1, Ghassan Hmaimess2, Sami Bizzari3, Lara El-Bazzal4, Mahmoud Taleb Al-Ali3, Samantha Stora1, Valerie Delague4, Stephany El-Hayek3
1Institut Jérôme Lejeune, CRB BioJeL, Paris, France
2Pediatric Department, Balamand University, Beirut, Lebanon
3Centre for Arab Genomic Studies, Dubai, United Arab Emirates
4Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France

Tài liệu tham khảo

Al-Gazali, 2014, Consanguinity and dysmorphology in Arabs, Hum. Hered., 77, 93, 10.1159/000360421 Bachmann-Gagescu, 2015, Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity, J. Med. Genet., 52, 514, 10.1136/jmedgenet-2015-103087 Bachmann-Gagescu, 2015, KIAA0586 is mutated in Joubert syndrome, Hum. Mutat., 36, 831, 10.1002/humu.22821 Beck, 2014, Mutation of POC1B in a severe syndromic retinal ciliopathy, Hum. Mutat., 35, 1153, 10.1002/humu.22618 Ben-Salem, 2014, Mutation spectrum of Joubert syndrome and related disorders among Arabs, 1, 14020 Coene, 2009, OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin, Am. J. Hum. Genet., 85, 465, 10.1016/j.ajhg.2009.09.002 Davis, 2011, TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum, Nat. Genet., 43, 189, 10.1038/ng.756 Garcia-Gonzalo, 2015, Phosphoinositides regulate ciliary protein trafficking to modulate Hedgehog signaling, Dev. Cell, 34, 400, 10.1016/j.devcel.2015.08.001 Jensen, 2017, Gates for soluble and membrane proteins, and two trafficking systems (IFT and LIFT), establish a dynamic ciliary signaling compartment, Curr. Opin. Cell Biol., 47, 83, 10.1016/j.ceb.2017.03.012 Karousis, 2018, Nonsense-mediated mRNA decay begins where translation ends Lindeboom, 2016, The rules and impact of nonsense-mediated mRNA decay in human cancers, Nat. Genet., 48, 1112, 10.1038/ng.3664 Marzesco, 1998, The rod cGMP phosphodiesterase delta subunit dissociates the small GTPase Rab13 from membranes, J. Biol. Chem., 273, 22340, 10.1074/jbc.273.35.22340 Parisi, 1993, Joubert syndrome Phelps, 2018, Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity, Genet. Med. : Off. J. Amer. College Med. Genet., 20, 223, 10.1038/gim.2017.94 Reiter, 2017, Genes and molecular pathways underpinning ciliopathies, Nat. Rev. Mol. Cell Biol., 18, 533, 10.1038/nrm.2017.60 Richards, 2015, 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. : Off. J. Amer. College Med. Genet., 17, 405, 10.1038/gim.2015.30 Romani, 2013, Joubert syndrome: congenital cerebellar ataxia with the molar tooth. The Lancet, Neurology, 12, 894 Roosing, 2014, Prenylation defects in inherited retinal diseases, J. Med. Genet., 51, 143, 10.1136/jmedgenet-2013-102138 Roosing, 2016, Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes, J. Med. Genet., 53, 608, 10.1136/jmedgenet-2016-103832 Shaheen, 2016, Characterizing the morbid genome of ciliopathies, Genome Biol., 17, 242, 10.1186/s13059-016-1099-5 Stephen, 2016, Shuttling and sorting lipid-modified cargo into the cilia, Biochem. Soc. Trans., 44, 1273, 10.1042/BST20160122 Thomas, 2014, A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium, Hum. Mutat., 35, 137, 10.1002/humu.22470 Valente, 2013, Joubert syndrome and related disorders, Handb. Clin. Neurol., 113, 1879, 10.1016/B978-0-444-59565-2.00058-7 Van De Weghe, 2017, Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish, Am. J. Hum. Genet., 101, 23, 10.1016/j.ajhg.2017.05.010 Xu, 2017, The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane, J. Am. Soc. Nephrol. : JASN (J. Am. Soc. Nephrol.), 28, 118, 10.1681/ASN.2015080906