Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Autor: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

Publikováno v: HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)

Summary: Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Autor: Zhang C; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Jolly A; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Medical Scientist Training Program, BCM, Houston, TX 77030, USA., Shayota BJ; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Mazzeu JF; University of Brasilia, Brasilia 70050, Brazil.; Robinow Syndrome Foundation, Anoka, MN 55303, USA., Du H; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Dawood M; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Medical Scientist Training Program, BCM, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Soper PC; GeneDx Inc., Gaithersburg, MD 20878, USA., Ramalho de Lima A; University of Brasilia, Brasilia 70050, Brazil., Ferreira BM; University of Brasilia, Brasilia 70050, Brazil., Coban-Akdemir Z; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, UTHealth, Houston, TX 77030, USA., White J; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Thomson FR; Cardiothoracic Surgery, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Douglas SL; NHS Lothian, Edinburgh EH1 3EG, UK., Wainwright A; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Bailey K; Pediatric Rheumatology, Nuffield Orthopedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Wordsworth P; Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Botnar Research Centre, Oxford OX3 7LD, UK., Oldridge M; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Lester T; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK., Calder AD; Radiology Department, Great Ormond Street Hospital NHS Foundation Trust, London WC1N 3JH, UK., Dumic K; Department of Pediatric Endocrinology and Diabetes, University Clinical Center Zagreb, Zagreb 10000, Croatia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK.; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Donnai D; Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jhangiani SN; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Potocki L; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, NY 10032, USA., Mora S; GeneDx Inc., Gaithersburg, MD 20878, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Ashfaq M; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Mason K; GeneDx Inc., Gaithersburg, MD 20878, USA.; Arnold Palmer Hospital for Children, Orlando, FL 32806, USA., Pollack LC; Arnold Palmer Hospital for Children, Orlando, FL 32806, USA., McConkie-Rosell A; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., Kelly W; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., McDonald M; Division of Medical Genetics, Duke University Medical Center, Durham, NC 27708, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., Leahy P; Cook Children's Hospital, Fort Worth, TX 76104, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA., Boy R; State University of Rio de Janeiro, Rio de Janeiro 21941, Brazil., Honjo RS; Unidade de Genética, Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, University of Sao Paulo, São Paulo 05508, Brasil., Kok F; Mendelics Análise Genômica, São Paulo 04013, Brasil., Martelli LR; Department of Genetics, Ribeirao Preto Medical School, University of Sao Paulo, São Paulo 05508, Brazil., Filho VO; Instituto de Tratamento do Câncer Infantil, São Paulo University Medical School, Hospital Israelita Albert Einstein, São Paulo 05508, Brasil., Genomics England Research Consortium; Genomics England and William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Muzny DM; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Gibbs RA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA., Liu P; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Baylor Genetics, Houston, TX 77021, USA., Lupski JR; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA.; Department of Pediatrics, BCM, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Carvalho CMB; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.; Pacific Northwest Research Institute (PNRI), Seattle, WA 98122, USA.

Publikováno v: HGG advances [HGG Adv] 2021 Dec 03; Vol. 3 (1), pp. 100074. Date of Electronic Publication: 2021 Dec 03 (Print Publication: 2022).