Journal
HUMAN MUTATION
Volume 33, Issue 10, Pages 1444-1449Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.22133
Keywords
Bruck syndrome; BS; osteogenesis imperfecta; PLOD2; FKBP10; Lysyl hydroxylase 2; type I collagen
Categories
Funding
- Spanish Ministry of Science and Innovation [SAF2010-17901]
- Centro de Investigacion Biomedica en Red de Enfermedades Raras Programa de Investigacion de Enfermedades Pediatricas
- Lung GO Sequencing Project [HL-102923]
- Women's Health Initiative Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
Ask authors/readers for more resources
PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, we sought mutations in six consanguineous BS families and detected changes in either PLOD2 or FKBP10 in all cases. Two probands were found with a homozygous frameshift mutation in the alternative exon 13a of PLOD2, indicating that specific inactivation of the longer protein isoform encoded by this gene is sufficient to cause BS. In addition, by homozygosity mapping, followed by a candidate gene approach, we identified a homozygous donor splice site mutation in PLOD2 in a patient with autosomal-recessive OI (AR-OI). Screening of additional samples also revealed compound heterozygous mutations in PLOD2 in two brothers, one affected with mild AR-OI and the other with mild BS. Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity. Hum Mutat 33:1444-1449, 2012. (C) 2012 Wiley Periodicals, Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available