Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC...

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Main Authors:	Peiran Zhou, Yi Liu, Fang Lv, Min Nie, Yan Jiang, Ou Wang, Weibo Xia, Xiaoping Xing, Mei Li
Format:	Article
Language:	English
Published:	Public Library of Science (PLoS) 2014-01-01
Series:	PLoS ONE
Online Access:	http://europepmc.org/articles/PMC4169569?pdf=render

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spelling	doaj-e7e94616d329409f82cad2d980b0f9cc2020-11-25T00:47:05ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0199e10759410.1371/journal.pone.0107594Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.Peiran ZhouYi LiuFang LvMin NieYan JiangOu WangWeibo XiaXiaoping XingMei LiBruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and c.1880T>C (p.Val627Ala) in exon 17 of PLOD2 were identified in another probrand. Intravenous zoledronate was a potent agent for these patients, confirmed the efficacy of bisphosphonates on this disease. In conclusion, the novel causative mutations identified in the patients expand the genotypic spectrum of BS.http://europepmc.org/articles/PMC4169569?pdf=render
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Peiran Zhou Yi Liu Fang Lv Min Nie Yan Jiang Ou Wang Weibo Xia Xiaoping Xing Mei Li
spellingShingle	Peiran Zhou Yi Liu Fang Lv Min Nie Yan Jiang Ou Wang Weibo Xia Xiaoping Xing Mei Li Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients. PLoS ONE
author_facet	Peiran Zhou Yi Liu Fang Lv Min Nie Yan Jiang Ou Wang Weibo Xia Xiaoping Xing Mei Li
author_sort	Peiran Zhou
title	Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
title_short	Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
title_full	Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
title_fullStr	Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
title_full_unstemmed	Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
title_sort	novel mutations in fkbp10 and plod2 cause rare bruck syndrome in chinese patients.
publisher	Public Library of Science (PLoS)
series	PLoS ONE
issn	1932-6203
publishDate	2014-01-01
description	Bruck syndrome (BS) is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and short stature. We described the phenotypes of BS in two Chinese patients for the first time. The novel compound heterozygous mutations c.764_772dupACGTCCTCC (p.255_257dupHisValLeu) in exon 5 and c.1405G>T (p.Gly469X) in exon 9 of FKBP10 were identified in one proband. The novel compound heterozygous mutations c.1624delT (p.Tyr542Thrfs*18) in exon 14 and c.1880T>C (p.Val627Ala) in exon 17 of PLOD2 were identified in another probrand. Intravenous zoledronate was a potent agent for these patients, confirmed the efficacy of bisphosphonates on this disease. In conclusion, the novel causative mutations identified in the patients expand the genotypic spectrum of BS.
url	http://europepmc.org/articles/PMC4169569?pdf=render
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Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

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