Congenital anomalies最新文献

{"title":"Low‐prevalence mosaicism of chromosome 18q distal deletion identified by exome‐based copy number profiling in a child with cerebral hypomyelination","authors":"T. Shiohama, M. Nakashima, Hajime Ikehara, Mitsuhiro Kato, H. Saitsu","doi":"10.1111/cga.12351","DOIUrl":"https://doi.org/10.1111/cga.12351","url":null,"abstract":"Partial deletions of chromosome 18q distal lead to diverse congenital dysmorphic features such as hypomyelination short stature cleft lip and palate foot deformity and aural atresia. In contrast mosaicism of 18q distal deletion is a rarer situation with a highly variable phenotype, leading to clinical diagnostic challenges A Japanese female was born at term with no asphyxia. Her family history was unremarkable. At 5 months of age, the patient was admitted due to no head control. Physical examination revealed general muscle hypotonus, course face with hypertelorism, microcephaly (37.5 cm, −2.7SD), curly hair, lymphedema foot, short fifth fingers, and malposition of the first and the fifth foot digits. Gastrointestinal and urological examination revealed tubular anal duplication, right hydronephrosis, and vesicoureteral reflux. She subsequently presented focal epilepsy with the dominancy in the left upper limb and bilateral sensorineural hearing loss. Brain magnetic resonance imaging at 5 years of age showed complete agenesis of the corpus callosum (ACC) (Figure 1A) and diffuse cerebral hypomyelination (Figure 1B). At 10 years, she could sit supported, but say no words. G-banded analysis at 2 years of age showed a normal female karyotype (46,XX). We performed whole exome sequencing (WES) at 11 years of age. We could not find any possible pathogenic single nucleotide variants but found about 20 Mb deletion at 18q21.31-qter (chr18:56585841-77513763) by two copy number variants (CNVs) detection tools (Figure 1C,D). The quantitative polymerase chain reaction showed 0.8 of relative copy number ratio to a control sample. The FISH analysis using 18q unique probe showed two copy signal patterns in all the 10 lymphocytes prepared at 2 and 7 years. Finally, we evaluated the WES data by H3M2 program, a detection program of runs of homozygosity. In the normal two copy region, B allele frequency (BAF), the ratio between B-allele read counts and the total number of reads mapped to that position (A + B allele), showed three lines. Value of zero and 1.0 means homoor hemizygous for A and B alleles, respectively, and about 0.5 means heterozygous allele. However, in the deletion interval, BAF showed four lines, suggesting that two types of heterozygous alleles (mosaic A or B allele deletion in the A/B heterozygous allele) were present in this region (Figure 1D). Chromosomal microarray analysis (CytoScan HD Array, Affymetrix) showed arr[hg19] 18q21.2q23(51392374-78 014 123)x1-2 (Figure S1). Therefore, we concluded that this patient has the low-prevalence mosaic deletion of 18q21.2qter. The partial deletion on the chromosome 18q23 including myelin basic protein (MBP) and a galanin receptor (GALR1) is critically related to cerebral hypomyelination. Prior cohort studies reported that partial chromosome 18q deletion was identified in three of 26 patients with hypomyelination leukodystrophy, and none of 162 patients with ACC. Although the combination of cerebral hypomyelin","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"34 1","pages":"94 - 96"},"PeriodicalIF":0.0,"publicationDate":"2020-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90894938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"THE 59TH ANNUAL MEETING OF THE JAPANESE TERATOLOGY SOCIETY THE 13TH WORLD CONGRESS OF THE INTERNATIONAL CLEFT LIP AND PALATE FOUNDATION - CLEFT 2019.","authors":"","doi":"10.1111/cga.12359","DOIUrl":"https://doi.org/10.1111/cga.12359","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"87 1","pages":"A1-A89"},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77244517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reviewers","authors":"","doi":"10.1111/cga.12360","DOIUrl":"https://doi.org/10.1111/cga.12360","url":null,"abstract":"Asselain, Bernard. Atsushi, Narita. Aydin, Emine. Azab, Belal. Baba, Otto. Bergman, Jorieke E. H. Borg, Isabella. Bragg, DC. Crofton, Kevin. Dastgiri, Saeed. Endo, Masayuki. Fujiwara, Michio. Hashemi, Mohammad. Hashizume, Naoki. Hashizume, Naoki. Horimoto, Masao. Hoshi, Nobuhiko. Imoto, I. Imura, Hideto. Io, Shingo. Iseki, Sachiko. Itoh, Motoyuki. Johnston, JJ. Kaname, Tadashi. Kanda, Yasunari. Kikuchi, Norihiko. Kohno, Miyuki. Kondo, Atsuo. Kondo, Eiji. Kosaki, Rika. Kosho, Tomiki. Kumamoto, Takayuki. Kuroda, Yukiko. Kurosawa, Kenji. Lamers, Wouter. López Camelo, Jorge. Matsuo, Mari. Matsuo, Takuya. Mineshima, Hiroshi. Miyake, Hidehiko. Mizuguchi, Masashi. Moslehi, Roxana. Nakajima, Takayuki. Nakajima, Yuji. Nakamura, Yasushi. Nakanishi, Tsuyoshi. Nakata, Hiroki. Narita, Masaaki. Naruse, Katsuhiko. Naseer, Muhammad. Nelson, Pace. Nemoto, Takahiro. Niihori, Tetsuya. Ninomiya, Shinsuke. Nishijyo, Muneko. Numabe, Hironao. Obara, Taku. Okamoto, Nobuhiko. Osaka, Hitoshi. Otani, Hiroki. Özel, Ş. Ozgu-Erdinc, A. Seval. Park, JH. Patil, Siddaramappa. Pooh, Ritsuko. Saito, Shinji. Saitsu, Hirotomo. Seto, Toshiyuki. Shahid, Ramla. Shimizu, Kenji. Shimojima, Keiko. Shiota, Kohei. Stankiewicz, Pawel. Takenouchi, Toshiki. Tsuji, Ryozo. Umair, Muhammad. Van Gemert, Martin J.C. Wada, Takahito. Wenger, Tara L. Wilson, R. Douglas. Wu, Wei-Li. Yamada, Shigehito. Yamada, T. Yamamoto, Toshiyuki. Yoshihashi, Hiroshi. DOI: 10.1111/cga.12360","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"13 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87713461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"What we should do for the future of children—A report on the Joint Meeting of the 59th Annual Meeting of the Japanese Teratology Society and the 13th World Congress of the International Cleft Lip and Palate Foundation‐CLEFT 2019","authors":"N. Natsume","doi":"10.1111/cga.12355","DOIUrl":"https://doi.org/10.1111/cga.12355","url":null,"abstract":"The Joint Meeting of the 59th Annual Meeting of the Japanese Teratology Society and the 13th World Congress of the International Cleft Lip and Palate Foundation—CLEFT 2019—was held at Meijo-Koen Campus of Aichi Gakuin University in Nagoya, Aichi in Japan, from 26 to 29 July 2019. The main theme of the meeting was advocated to be “For the Future of Children.—Disseminating a philosophy of “Medicine is Jinjutsu” from Japan to the world.” And for the meeting, the following topics were suggested: (a) What you can do to protect the lives of fetuses, (b) Treatment and research for congenital anomalies.—Introduce the delicate skills and techniques and the latest research from Japan, (c) Current status and outlook for international medical assistance in congenital anomalies.—Dissemination the philosophy of “Medicine is Jinjutsu (a benevolent art),” (d) The role of monitoring of congenital anomalies in Japan.—Including the data of “Fukushima” after the 2011 nuclear accident, (e) Possible roles of the folic acid for prevention of congenital anomalies. We appointed Mr. Akihisa Mizuno (President, Japanese Cleft Palate Foundation; Chairman of the Board of Directors, Chubu Electric Power Co., Inc.) as the Honorary Congress President and Prof. Nagato Natsume (Director, Cleft Lip and Palate Center Aichi Gakuin University Hospital; Professor, Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University) as the Congress President. As Vice Congress Presidents, Prof. Yuri Fujiwara (Department of Speech-Language-Hearing Therapy, Osaka Health Science University), Prof. Koichi Ueda (Department of Plastic and Reconstructive Surgery, Osaka Medical College), Prof. Noriaki Yoshida (Department of Orthodontics and Dentofacial Orthopedics, Nagasaki University), Dr. Jun Takebe (Department of Removable Prosthodontics, Aichi Gakuin University) were appointed. Dr. Hideto Imura and Dr. Toko Hayakawa acted as Chairs of the Preparatory Committee, and Dr. Masaaki Ito played a role of the Vice Chair of the Preparatory Committee (Figure 1). The joint meeting has gotten 723 participants from a total of 41 countries and regions. The countries and regions included Belgium, Cambodia, Chile, China, Czech Republic, Ecuador, Egypt, Ethiopia, Finland, Germany, Hong Kong Special Administrative Region of China, India, Indonesia, Iraq, Israel, Kuwait, Lao PDR, Mexico, Mongolia, Mozambique, Myanmar, Nigeria, Pakistan, Philippines, Republic of Korea, Russian Federation, Singapore, South Africa, Spain, Sri Lanka, Sudan, Taiwan, Thailand, Tunisia, Turkey, Ukraine, United Kingdom of Great Britain and Northern Ireland, United States of America, Uzbekistan, and Viet Nam (Figure 1). The number of presentations counted 323 titles. The Presidential Lecture was titled “Dedicating my life to treat cleft lip and palate with deep appreciation to ICPF and JTS.” The program included seven other Special Lectures: “Towards establishment of “Embryatrics”; revisited and ","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"42 1","pages":"186 - 189"},"PeriodicalIF":0.0,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85161222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre‐Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9","authors":"Hiroko Shimbo, T. Oyoshi, K. Kurosawa","doi":"10.1111/cga.12216","DOIUrl":"https://doi.org/10.1111/cga.12216","url":null,"abstract":"Saethre‐Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"642 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84178164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel splice site mutation in EIF2AK3 gene causes Wolcott‐Rallison syndrome in a consanguineous family from Saudi Arabia","authors":"J. Al-Aama, H. S. Al-Zahrani, M. Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed","doi":"10.1111/cga.12217","DOIUrl":"https://doi.org/10.1111/cga.12217","url":null,"abstract":"Jumana Yousuf Al-Aama, Hams Saeed Al-Zahrani, Musharraf Jelani , Hesham Salih Sabir, Saad Abdullah Al-Saeedi, and Saleem Ahmed Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Pediatric Radiology Unit, Faculty of Medicine, and Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"50 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80671250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient","authors":"K. Shimojima, N. Okamoto, Toshiyuki Yamamoto","doi":"10.1111/cga.12205","DOIUrl":"https://doi.org/10.1111/cga.12205","url":null,"abstract":"Cases of 2q23q24 microdeletion syndrome are rare. Patients with chromosomal deletions in this region often show language impairment and/or developmental delay of variable severity. Previous genotype–phenotype correlation study suggested GALNT13 and KCNJ3 as possible candidate genes for such phenotypes. We identified a new overlapping deletion in a patient with severe developmental delay. The identified deletion extended toward the distal 2q24.1 region, and more severe phenotypes in the present patient were considered to be related to the additionally deleted genes including NR4A2 and GPD2. Previously reported chromosomal translocation and the mutation identified in GPD2 suggested that this gene would be responsible for the developmental delay. Re‐evaluation for the critical region for behavior abnormalities commonly observed in the patients with overlapping deletions of this region suggested that KCNJ3 rather than GALNT13 may be responsible for abnormal behaviors, although there was phenotypic variability. Combinatory deletions involving KCNJ3 and GPD2 may lead to more severe developmental delay. Further studies would be necessary to establish clearer genotype–phenotype correlation in patients with 2q23q24 microdeletion syndrome.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"51 1","pages":"109 - 113"},"PeriodicalIF":0.0,"publicationDate":"2017-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89571684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader‐Willi syndrome","authors":"Hironobu Okuno, K. Nakabayashi, K. Abe, Takayuki Ando, Tsukasa Sanosaka, J. Kohyama, W. Akamatsu, M. Ohyama, Takao Takahashi, K. Kosaki, H. Okano","doi":"10.1111/cga.12206","DOIUrl":"https://doi.org/10.1111/cga.12206","url":null,"abstract":"Prader‐Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS‐imprinting control region in chromosome 15q11.2, subject to parent‐of‐origin‐specific methylation and controlling the parent‐of‐origin‐specific expression of other paternally expressed genes flanking the region. In theory, the reversal of hypermethylation in the hypothalamic cells could be a promising strategy for the treatment of PWS patients, since cardinal symptoms of PWS patients are correlated with dysfunction of the hypothalamus. The genome‐wide methylation status dramatically changes during the reprograming of somatic cells into induced pluripotent stem cells (iPSCs) and during the in vitro culture of iPSCs. Here, we tested the methylation status of the chromosome 15q11.2 region in iPSCs from a PWS patient using pyrosequencing and a more detailed method of genome‐wide DNA methylation profiling to reveal whether iPSCs with a partially unmethylated status for the chromosome 15q11.2 region exhibit global methylation aberrations. As a result, we were able to show that a fully methylated status for chromosome 15q11.2 in a PWS patient could be reversed to a partially unmethylated status in at least some of the PWS‐iPSC lines. Genome‐wide DNA methylation profiling revealed that the partial unmethylation occurred at differentially methylated regions located in chromosome 15q11.2, but not at other differentially methylated regions associated with genome imprinting. The present data potentially opens a door to cell‐based therapy for PWS patients and, possibly, patients with other disorders associated with genomic imprinting.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"130 1","pages":"103 - 96"},"PeriodicalIF":0.0,"publicationDate":"2017-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75037440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regional difference in sulcal infolding progression correlated with cerebral cortical expansion in cynomolgus monkey fetuses","authors":"K. Sawada, K. Fukunishi, M. Kashima, Noritaka Imai, S. Saito, I. Aoki, Y. Fukui","doi":"10.1111/cga.12209","DOIUrl":"https://doi.org/10.1111/cga.12209","url":null,"abstract":"The present study aimed to specify the cerebral sulci developed by cortical expansion in cynomolgus monkey fetuses. The degree of sulcal infolding was evaluated by the gyrification index (GI), which was quantified using ex vivo magnetic resonance imaging. The correlation of cortical volume with the sulcal GI was most frequent during embryonic days (EDs) 100 to 120. Interestingly, the high correlation was marked during EDs 140 to 150 in restricted primary sulci in prefrontal, parietotemporal and medial temporal regions. The present results suggest that cortical expansion is involved in gyral demarcation by sulcal infolding, followed by the sulcal infolding progression in phylogenetically‐newer cortices.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"12 1","pages":"114 - 117"},"PeriodicalIF":0.0,"publicationDate":"2017-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81902140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Formation of the circle of Willis during human embryonic development","authors":"T. Takakuwa, Teppei Koike, Taiga Muranaka, C. Uwabe, S. Yamada","doi":"10.1111/cga.12165","DOIUrl":"https://doi.org/10.1111/cga.12165","url":null,"abstract":"The circle of Willis (CW) is a circulatory anastomosis that supplies blood to the brain and adjacent structures. We examined the timing of formation of CW in 20 Japanese human embryo samples by using 3‐dimensional reconstruction of serial histological sections. The CW was closed in 1 (n = 6), 2 (n = 8), 2 (n = 3) and 2 (n = 3) samples at Carnegie stages 20, 21, 22, and 23, respectively. The CW was unclosed in 13 samples (unclosed at ACOM alone, 6 samples; ACOM and bilateral P1, 4; left PCOM and right P1, 1; right PCOM and right P1, 1; ACOM and left PCOM, 1). It was difficult to predict whether the circle would close during further development, as such variations frequently exist in adults.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"53 1","pages":"233 - 236"},"PeriodicalIF":0.0,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89820144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}