Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties-Reference-Cited by-同舟云学术

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

Published:2017-04-20 Issue:7 Volume:38 Page:805-815
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tanigawa Junpei¹,Mimatsu Haruka²,Mizuno Seiji³,Okamoto Nobuhiko⁴,Fukushi Daisuke⁵,Tominaga Koji¹⁶,Kidokoro Hiroyuki⁷,Muramatsu Yukako²,Nishi Eriko³,Nakamura Shota⁸,Motooka Daisuke⁸,Nomura Noriko⁵,Hayasaka Kiyoshi⁹,Niihori Tetsuya¹⁰,Aoki Yoko¹⁰,Nabatame Shin¹,Hayakawa Masahiro²,Natsume Jun¹¹,Ozono Keiichi¹,Kinoshita Taroh¹²,Wakamatsu Nobuaki⁵,Murakami Yoshiko¹²

Affiliation:

1. Department of Pediatrics; Graduate School of Medicine; Osaka University; Suita Osaka Japan

2. Division of Neonatology Center for Maternal-Neonatal Care; Nagoya University Hospital; Nagoya Aichi Japan

3. Department of Pediatrics; Central Hospital; Aichi Human Service Center; Kasugai Aichi Japan

4. Department of Medical Genetics; Osaka Medical Center and Research Institute for Maternal and Child Health; Izumi Osaka Japan

5. Department of Genetics; Institute for Developmental Research; Aichi Human Service Center; Kasugai Aichi Japan

6. Department of Child Development; United Graduate School of Child Development; Osaka University; Suita Osaka Japan

7. Department of Pediatrics; Nagoya University Hospital; Nagoya Aichi Japan

8. Department of Infection Metagenomics; Research Institute for Microbial Diseases; Osaka University; Suita Osaka Japan

9. Department of Pediatrics; Yamagata University School of Medicine; Yamagata Yamagata Japan

10. Department of Medical Genetics; Tohoku University School of Medicine; Sendai Miyagi Japan

11. Department of Developmental Disability Medicine and Department of Pediatrics; Nagoya University Graduate School of Medicine; Nagoya Aichi Japan

12. Department of Immunoregulation; Research Institute for Microbial Diseases Osaka University; Suita Osaka Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labour and Welfare

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency;Almeida;Nature Medicine,2006

2. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality;Belet;Human Mutation,2014

3. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome;Chiyonobu;Journal of Medical Genetics,2014

4. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability;Edvardson;Journal of Medical Genetics,2017

5. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2;Fauth;American Journal of Medical Genetics Part A,2016

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