𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

✍ Scribed by Erica P Homan; Frank Rauch; Ingo Grafe; Caressa Lietman; Jennifer A Doll; Brian Dawson; Terry Bertin; Dobrawa Napierala; Roy Morello; Richard Gibbs; Lisa White; Rika Miki; Daniel H Cohn; Susan Crawford; Rose Travers; Francis H Glorieux; Brendan Lee

Publisher
American Society for Bone and Mineral Research
Year
2011
Tongue
English
Weight
376 KB
Volume
26
Category
Article
ISSN
0884-0431

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/trafficking of type I procollagen. Recessive OI type VI is unique among OI types in that it is characterized by an increased amount of unmineralized osteoid, thereby suggesting a distinct disease mechanism. In a large consanguineous family with OI type VI, we performed homozygosity mapping and next-generation sequencing of the candidate gene region to isolate and identify the causative gene. We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF 1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium-derived factor. Hence, loss of pigment epithelium-derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization. Β© 2011 American Society for Bone and Mineral Research

πŸ“œ SIMILAR VOLUMES

Mutations in FKBP10 cause recessive oste
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
✍ Brian P Kelley; Fransiska Malfait; Luisa Bonafe; Dustin Baldridge; Erica Homan; πŸ“‚ Article πŸ“… 2011 πŸ› American Society for Bone and Mineral Research 🌐 English βš– 235 KB

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (__COL1A1__ or __COL1A2__) encoding the chains of type

COL1 C-propeptide cleavage site mutation
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
✍ Katarina Lindahl; Aileen M. Barnes; Nadja Fratzl-Zelman; Michael P. Whyte; There πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 632 KB

Osteogenesis imperfecta (OI) is most often caused by mutations in the type I procollagen genes (COL1A1/COL1A2). We identified two children with substitutions in the type I procollagen C-propeptide cleavage site, which disrupt a unique processing step in collagen maturation and define a novel phenoty

CRTAP and LEPRE1 mutations in recessive
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
✍ Dustin Baldridge; Ulrike Schwarze; Roy Morello; Jennifer Lennington; Terry K. Be πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 401 KB

Autosomal dominant osteogenesis imperfecta (OI) is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Recently, dysregulation of hydroxylation of a single proline residue at position 986 of both the triple-helical domains of type I collagen a1(I) and type II

Identification of a mutation causing def
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
✍ VΓ­ctor MartΓ­nez-Glez; Maria Valencia; JosΓ© A. CaparrΓ³s-MartΓ­n; Mona Aglan; Samia πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 383 KB

Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10.

Heterozygous C-propeptide mutations in C
Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant
✍ Masaki Takagi; Naoaki Hori; Yasutsugu Chinen; Kenji Kurosawa; Yukichi Tanaka; Ki πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 692 KB

## Abstract Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple ve