Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

Published:2016-10-13 Issue:1 Volume:3 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Shimojima Keiko,Ondo Yumiko,Nishi Eriko,Mizuno Seiji,Ito Miharu,Ioi Aya,Shimizu Mariko,Sato Maho,Inoue Masami,Okamoto Nobuhiko,Yamamoto Toshiyuki^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201633.pdf

Reference17 articles.

1. Cottereau E, Mortemousque I, Moizard MP, Burglen L, Lacombe D, Gilbert-Dussardier B et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013; 163C: 92–105.

2. Tenorio J, Arias P, Martinez-Glez V, Santos F, Garcia-Minaur S, Nevado J et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 2014; 9: 138.

3. Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 1996; 12: 241–247.

4. Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y et al. GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2007; 143A: 1703–1707.

5. Sangu N, Okamoto N, Shimojima K, Ondo Y, Nishikawa M, Yamamoto T . A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene. Hum Genome Var 2016; 3: 16008.

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic spectrum and tumor risk in Simpson‐Golabi‐Behmel syndrome: Case series and comprehensive literature review;American Journal of Medical Genetics Part A;2024-08-19

2. Simpson–Golabi–Behmel syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-05-20

3. A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing;Scientific Reports;2023-08-08

4. Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements;American Journal of Medical Genetics Part A;2022-10-25

5. Hepatoblastoma in molecularly defined, congenital diseases;American Journal of Medical Genetics Part A;2022-04-28