Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

Clinical GeneticsVolume 85, Issue 6 p. 592-594 LETTER TO THE EDITOR Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss Y. Tsurusaki, Y. Tsurusaki Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorR. Yonezawa, R. Yonezawa Department of Obstetrics and Gynecology, University of Toyama, Toyama, JapanSearch for more papers by this authorM. Furuya, M. Furuya Department of Molecular Pathology, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorG. Nishimura, G. Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, JapanSearch for more papers by this authorR.K. Pooh, R.K. Pooh Division of Fetal Imaging Diagnosis, CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, JapanSearch for more papers by this authorM. Nakashima, M. Nakashima Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorH. Saitsu, H. Saitsu Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorN. Miyake, N. Miyake Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorS. Saito, S. Saito Department of Obstetrics and Gynecology, University of Toyama, Toyama, JapanSearch for more papers by this authorN. Matsumoto, Corresponding Author N. Matsumoto Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, Japan Correspondence: Naomichi Matsumoto Department of Human Genetics Yokohama City Graduate School of Medicine 3-9 Fukuura, Kanazawa-ku Yokohama 236-0004 Japan Tel.: +81 45 787 2606 Fax: +81 45 786 5219 e-mail: [email protected]Search for more papers by this author Y. Tsurusaki, Y. Tsurusaki Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorR. Yonezawa, R. Yonezawa Department of Obstetrics and Gynecology, University of Toyama, Toyama, JapanSearch for more papers by this authorM. Furuya, M. Furuya Department of Molecular Pathology, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorG. Nishimura, G. Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, JapanSearch for more papers by this authorR.K. Pooh, R.K. Pooh Division of Fetal Imaging Diagnosis, CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, JapanSearch for more papers by this authorM. Nakashima, M. Nakashima Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorH. Saitsu, H. Saitsu Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorN. Miyake, N. Miyake Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorS. Saito, S. Saito Department of Obstetrics and Gynecology, University of Toyama, Toyama, JapanSearch for more papers by this authorN. Matsumoto, Corresponding Author N. Matsumoto Department of Human Genetics, Yokohama City Graduate School of Medicine, Yokohama, Japan Correspondence: Naomichi Matsumoto Department of Human Genetics Yokohama City Graduate School of Medicine 3-9 Fukuura, Kanazawa-ku Yokohama 236-0004 Japan Tel.: +81 45 787 2606 Fax: +81 45 786 5219 e-mail: [email protected]Search for more papers by this author First published: 05 July 2013 https://doi.org/10.1111/cge.12215Citations: 23Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1Walczak-Sztulpa J, Eggenschwiler J, Osborn D et al. Cranioectodermal dysplasia, sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet 2010: 86: 949– 956. 2Saitsu H, Nishimura T, Muramatsu K et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013: 45: 445– 449. 3Eleftheriades M, Iavazzo C, Manolakos E et al. Recurrent short rib polydactyly syndrome. J Obstet Gynaecol 2013: 33: 14– 16. 4Cortellino S, Wang C, Wang B et al. Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4. Dev Biol 2009: 325: 225– 237. 5Bhuiyan ZA, Momenah TS, Gong Q et al. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm 2008: 5: 553– 561. Citing Literature Volume85, Issue6June 2014Pages 592-594 ReferencesRelatedInformation