Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

Autor: Deconte, Desirée¹ (AUTHOR) desideconte@gmail.com, Diniz, Bruna Lixinski¹ (AUTHOR) bruldiniz@gmail.com, Hartmann, Jéssica K.² (AUTHOR) jekarineh1997@gmail.com, de Souza, Mateus A.² (AUTHOR) mateuss@ufcspa.edu.br, Zottis, Laira F. F.² (AUTHOR) lairazottis@gmail.com, Zen, Paulo Ricardo Gazzola³ (AUTHOR) paulozen@ufcspa.edu.br, Rosa, Rafael F. M.³ (AUTHOR), Fiegenbaum, Marilu⁴ (AUTHOR) mariluf@ufcspa.edu.br

Publikováno v: International Journal of Molecular Sciences. Jul2024, Vol. 25 Issue 14, p7900. 7p.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Autor: Alby C; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Piquand K; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Huber C; INSERM U1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Megarbané A; Medical Genetics Unit, Saint Joseph University, Rue de Damas, BP 175208, Mar Mikhaël, Beyrouth 1104, Lebanon., Ichkou A; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Legendre M; Department of Genetics, Poitiers University Hospital, 2 Rue de la Milétrie, 86021 Poitiers, France., Pelluard F; Unité de Pathologie Fœtoplacentaire, Groupe Hospitalier Pellegrin, Centre Hospitalier Universitaire, Place Amélie Raba-Léon, 33076 Bordeaux Cedex, France., Encha-Ravazi F; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Abi-Tayeh G; Service de Gynécologie Obstétrique, Hôtel-Dieu de France, BP 166830, Achrafieh, Beyrouth 1100, Lebanon., Bessières B; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., El Chehadeh-Djebbar S; Génétique et Anomalies du Développement EA4271, Université de Bourgogne, 21000 Dijon, France., Laurent N; Génétique et Anomalies du Développement EA4271, Université de Bourgogne, 21000 Dijon, France., Faivre L; Génétique et Anomalies du Développement EA4271, Université de Bourgogne, 21000 Dijon, France., Sztriha L; Department of Paediatrics, Faculty of Medicine, University of Szeged, Korányi fasor 14-15, 6725 Szeged, Hungary., Zombor M; Department of Paediatrics, Faculty of Medicine, University of Szeged, Korányi fasor 14-15, 6725 Szeged, Hungary., Szabó H; Department of Paediatrics, Faculty of Medicine, University of Szeged, Korányi fasor 14-15, 6725 Szeged, Hungary., Failler M; INSERM U1163, Laboratory of Inherited Kidney Diseases, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Garfa-Traore M; Cell Imaging Platform, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Bole C; Genomic Core Facility, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Nitschké P; Bioinformatics Core Facility, Paris Descartes University, Sorbonne Paris Cité, 75015 Paris, France., Nizon M; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France; INSERM U1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Elkhartoufi N; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Clerget-Darpoux F; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Munnich A; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Lyonnet S; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Vekemans M; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Saunier S; INSERM U1163, Laboratory of Inherited Kidney Diseases, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Cormier-Daire V; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France; INSERM U1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France., Attié-Bitach T; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France; Département de Génétique, Hôpital Necker - Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Thomas S; INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, 75015 Paris, France. Electronic address: sophie.thomas@inserm.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Aug 06; Vol. 97 (2), pp. 311-8. Date of Electronic Publication: 2015 Jul 09.

Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.

Autor: Zhao, Qianying^1,2 (AUTHOR), Xu, Bocheng^1,2 (AUTHOR), Xiang, Qinqin^1,2 (AUTHOR), Tan, Yu^1,2 (AUTHOR), Xie, Hanbing^1,2 (AUTHOR), Gao, Qianqian^2,3 (AUTHOR), Wen, Lingyi^2,4 (AUTHOR), Wang, He^1,2 (AUTHOR), Yang, Mei^1,2 (AUTHOR) 562545550@qq.com, Liu, Shanling^1,2 (AUTHOR) sunny630@126.com

Publikováno v: Molecular Genetics & Genomic Medicine. Mar2023, Vol. 11 Issue 3, p1-7. 7p.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Autor: Alby C, Piquand K, celine huber, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Thomas S

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::713926e410fc71a6f413f883a99c8657
http://europepmc.org/abstract/PMC/PMC4573267

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Autor: Owens JW; UPMC Children's Hospital of Pittsburgh Division of Genetic and Genomic Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Department of Pediatrics, Cincinnati Children's Hospital Medical Center Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Hopkin RJ; Department of Pediatrics, Cincinnati Children's Hospital Medical Center Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Martin LJ; Department of Pediatrics, Cincinnati Children's Hospital Medical Center Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Kodani A; Department of Cell and Molecular Biology, Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Simpson BN; Department of Pediatrics, Cincinnati Children's Hospital Medical Center Division of Human Genetics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Publikováno v: Annals of human genetics [Ann Hum Genet] 2024 Jan; Vol. 88 (1), pp. 86-100. Date of Electronic Publication: 2023 Nov 03.