Unknown

Dataset Information

0

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

ABSTRACT: 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.

SUBMITTER: Zhou P 

PROVIDER: S-EPMC4169569 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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

Zhou Peiran P   Liu Yi Y   Lv Fang F   Nie Min M   Jiang Yan Y   Wang Ou O   Xia Weibo W   Xing Xiaoping X   Li Mei M  

PloS one 20140919 9

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  ...[more]

Similar Datasets

Unknown Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
| S-EPMC3179293 | biostudies-literature
Unknown Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.
| S-EPMC6945817 | biostudies-literature
Unknown Abnormal Bone Collagen Cross-Linking in Osteogenesis Imperfecta/Bruck Syndrome Caused by Compound Heterozygous <i>PLOD2</i> Mutations.
| S-EPMC7990156 | biostudies-literature
Unknown Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in <i>PLOD2</i> Causing Bruck Syndrome Type 2.
| S-EPMC7921790 | biostudies-literature
Unknown NTNG1 mutations are a rare cause of Rett syndrome.
| S-EPMC2577736 | biostudies-literature
Unknown Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
| S-EPMC5436194 | biostudies-literature
Unknown Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
| S-EPMC9308926 | biostudies-literature
Unknown Novel ALMS1 mutations in Chinese patients with Alstrom syndrome.
| S-EPMC3774572 | biostudies-literature
Unknown Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
| S-EPMC3270005 | biostudies-literature
Unknown Novel mutations in GJA1 cause oculodentodigital syndrome.
| S-EPMC2588666 | biostudies-literature