Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
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- 作者：Jose A. Caparros-Martin ; Mona S. Aglan ; Samia Temtamy ; Ghada A. Otaify ; Maria Valencia ; Juliá ; n Nevado ; Elena Vallespin ; Angela Del Pozo ; Carmen Prior de Castro ; Lucia Calatrava-Ferreras ; Pilar Gutierrez ; Ana M. Bueno ; Belen Sagastizabal ; Encarna Guillen-Navarro ; Maria Ballesta-Martinez ; Vanesa Gonzalez ; Sarenur Y. Basaran ; Ruksan Buyukoglan ; Bilge Sarikepe ; Cecilia Espinoza-Valdez ; Francisco Cammarata-Scalisi ; Victor Martinez-Glez ; Karen E. Heath ; Pablo Lapunzina and Victor L. Ruiz-Perez
- 刊名：Molecular Genetics & Genomic Medicine
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：5
- 期：1
- 页码：28-39
- 全文大小：126K
- ISSN：2324-9269
文摘
Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years there has been an explosion in the number of genes responsible for both recessive and dominant forms of this condition. Herein, we have analyzed a cohort of patients with OI, all offspring of unaffected parents, to determine the spectrum of variants accounting for these cases. Twenty patients had nonrelated parents and were sporadic, and 21 were born to consanguineous relationships.