Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 161A, Issue 6, Pages 1354-1369Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.35938
Keywords
osteogenesis imperfecta; Bruck syndrome; collagen type I; AluYb8
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)
- Centro de Investigacion Biomedica en Red de Enfermedades Raras (ACCI)
Ask authors/readers for more resources
Autosomal recessive osteogenesis imperfecta (AR-OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performed clinical assessment and sought mutations in patients from 10 unrelated families with AR-OI, one of whom was presented with the additional features of Bruck syndrome (BS). Pathogenic changes were identified in five different genes: three families had mutations in FKBP10, three in SERPINF1, two in LEPRE1, one in CRTAP, and one in PPIB. With the exception of a FKBP10 mutation in the BS case, all changes are novel. Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of SERPINF1. Since the studied patients had variable manifestations and some distinctive features, genotype/phenotype correlations are suggested. (C) 2013 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