7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly

European Journal of Medical Genetics - Tập 59 - Trang 502-506 - 2016
Keiko Shimojima1,2, Satoshi Narai3, Masami Togawa3, Tomotsune Doumoto3, Noriko Sangu2,4, Olivier M. Vanakker5, Anne de Paepe5, Matthew Edwards6, John Whitehall6, Sally Brescianini7, Florence Petit8, Joris Andrieux9, Toshiyuki Yamamoto2
1Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan
2Tokyo Women’s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
3Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan
4Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan
5Center For Medical Genetics, Ghent University Hospital, Ghent, Belgium
6Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia
7Centre for Genetic Education, University of Sydney, New South Wales, Australia
8CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France
9CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France

Tài liệu tham khảo

Caselli, 2015, 7p22.1 microduplication syndrome: clinical and molecular characterization of an adult case and review of the literature, Eur. J. Med. Genet., 58, 578, 10.1016/j.ejmg.2015.08.003 Chui, 2011, Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH, Am. J. Med. Genet. A, 155A, 2508, 10.1002/ajmg.a.34180 Di Donato, 2014, Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations, Eur. J. Hum. Genet., 22, 179, 10.1038/ejhg.2013.130 Filges, 2011, Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome, J. Med. Genet., 48, 117, 10.1136/jmg.2010.084582 Gallego, 2010, Use of array comparative genome hybridization in orofacial clefting, J. Craniofac Surg., 21, 1591, 10.1097/SCS.0b013e3181ebcc9c Goitia, 2015, Case of 7p22.1 microduplication detected by whole genome microarray (REVEAL) in workup of child diagnosed with autism, Case Rep. Genet., 2015, 212436 Hoischen, 2010, De novo mutations of SETBP1 cause Schinzel-Giedion syndrome, Nat. Genet., 42, 483, 10.1038/ng.581 Johnston, 2013, Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome, Hum. Mutat., 34, 1242, 10.1002/humu.22350 Margolin, 2013, Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination, N. Engl. J. Med., 368, 1992, 10.1056/NEJMoa1215993 Nunoi, 1999, A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection, Proc. Natl. Acad. Sci. U. S. A., 96, 8693, 10.1073/pnas.96.15.8693 Papadopoulou, 2006, A report of pure 7p duplication syndrome and review of the literature, Am. J. Med. Genet. A, 140, 2802, 10.1002/ajmg.a.31538 Pebrel-Richard, 2014, Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay, Am. J. Med. Genet. A, 164A, 2964, 10.1002/ajmg.a.36715 Preiksaitiene, 2012, Clinical and molecular characterization of a second case of 7p22.1 microduplication, Am. J. Med. Genet. A, 158A, 1200, 10.1002/ajmg.a.35300 Procaccio, 2006, A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia, Am. J. Hum. Genet., 78, 947, 10.1086/504271 Rendu, 2014, 7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot, Am. J. Med. Genet. A, 164A, 2133, 10.1002/ajmg.a.36566 Richards, 2011, Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22, Am. J. Med. Genet. A, 155A, 1729, 10.1002/ajmg.a.34041 Riviere, 2012, De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome, Nat. Genet., 44, 440, 10.1038/ng.1091 Schomig-Spingler, 1986, Chromosome 7 short arm deletion, 7p21–--pter, Hum. Genet., 74, 323 Shawlot, 1998, Restricted beta-galactosidase expression of a hygromycin-lacZ gene targeted to the beta-actin locus and embryonic lethality of beta-actin mutant mice, Transgenic Res., 7, 95, 10.1023/A:1008816308171 Shimada, 2013, Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism, Am. J. Med. Genet. A, 161A, 2078, 10.1002/ajmg.a.36027 Speleman, 1989, De novo terminal deletion 7p22.1–pter in a child without craniosynostosis, J. Med. Genet., 26, 528, 10.1136/jmg.26.8.528