Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

TÜYSÜZ, BEYHAN; Elkanova, Leyla; ULUDAĞ ALKAYA, DİLEK; Gulec, Cagri; Toksoy, Guven; GÜNEŞ, NİLAY; YAZAN, Hakan; Bayhan, A.; Yildirim, Timur; Yesil, Gözde; Uyguner, Z.

doi:10.1016/j.bone.2021.116293

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

TÜYSÜZ B., Elkanova L., ULUDAĞ ALKAYA D., Gulec C., Toksoy G., GÜNEŞ N., ...More

BONE, vol.155, 2022 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 155
Publication Date: 2022
Doi Number: 10.1016/j.bone.2021.116293
Journal Name: BONE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
Keywords: Osteogenesis imperfecta, COL1A1, COL1A2, MLPA, Whole exome sequencing, Autosomal recessive, GENOTYPE-PHENOTYPE CORRELATIONS, MUTATIONS, DIAGNOSIS, CRTAP, VARIABILITY, POPULATION, LETHAL
Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by increased bone fragility and deformities. Although most patients with OI have heterozygous mutations in COL1A1 or COL1A2, 17 genes have been reported to cause OI, most of which are autosomal recessive (AR) inherited, during the last years. The aim of this study is to determine the mutation spectrum in Turkish OI cohort and to investigate the genotype-phenotype correlation.