Case Report: A Novel Homozygous Variant of the ISERPINF1/I Gene in Rare Osteogenesis Imperfecta Type VI

Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. We described here a case of a one-year-old Tuvan pa...

Full description

Saved in:
Bibliographic Details
Published in:International journal of molecular sciences 2023-04, Vol.24 (7)
Main Authors: Zhalsanova, Irina Zh, Postrigan, Anna Evgenievna, Valiakhmetov, Nail Raushanovich, Kolesnikov, Nikita Aleksandrovich, Zhigalina, Daria Ivanovna, Zarubin, Aleksei Andreevich, Petrova, Valeria Viktorovna, Minaycheva, Larisa Ivanovna, Seitova, Gulnara Narimanovna, Skryabin, Nikolay Alekseevich, Stepanov, Vadim Anatolevich
Format: Article
Language:English
Subjects:
Bones
Density
Genes
Genetic aspects
Genetic screening
Osteogenesis imperfecta
Zoledronic acid
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. We described here a case of a one-year-old Tuvan patient with multiple fractures. The disease manifestation occurred first at 12 weeks of age as a shoulder joint bruise, and during the year, the patient sustained 27 fractures. Genetic testing revealed a novel homozygous mutation, c.259_260insCGGCC (p.T87fs), in the SERPINF1 gene. This insertion leads to an open-reading frameshift, and the mutation is not represented in the databases. Mutations in SERPINF1 lead to type VI OI, the clinical picture of which is similar to the disease phenotype manifestation of the patient. Thus, the patient's diagnosis was established by finding a novel pathogenic variant in the SERPINF1 gene.
ISSN:1422-0067
1422-0067
DOI:10.3390/ijms24076672