Abstract

Osteogenesis imperfecta (OI) type IV is a clinical entity with autosomal dominant inheritance in type 1 collagen genes; collagen, type I, alpha 2 (COL1A2) and more rarely collagen, type I, alpha 1 (COL1A1) point mutation or small deletion, and short stature, osteoporosis and/or diffuse osteopenia, repeating fractures and observed as normal sclera and more rarely seen compared to other type of osteogenesis imperfecta. On the physical examination of a 15-year old male child admitted to our clinic three times last year with minor traumas and complaints of fractures, the weight was 59 kg, height 150 cm, height standard deviation score (height SDS) -2.31, and upper/lower segment ratio 1.03. The sclera color was normal and other physical examination fi ndings also normal. The serum alkaline phosphatase (ALP), calcium (Ca), phosphorus (P), parathormone (PTH) levels were within the normal range. The patient’s serum 25(OH)D level was 16.7 mcg/L but his 1.25-(OH)2D3 level (30 pg/ml) was normal. The lumbar bone mineral density (BMD) of our patient who had a repeating fracture history conformed with osteoporosis (BMI z score:-3.1). After amplifying the DNA samples obtained from the patient’s serum, the molecular analysis made by using the reverse hybridization method helped determine a heterozygous COL1A1 spl (s/s) and homozygous Vitamin D receptor (VDR) Bsml (B/B) gene polymorphism.This result brings to mind the contribution of the VDR anomalies in the development of the disorders accompanying hereditary osteoporosis. In other words, the determination of the risk alleles of VDR and COL1A1 together is important in identifying a hereditary component of osteoporosis

Keywords: COL1A1, Osteogenezis imperfekta, Vitamin D receptor gene polymorphism

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Copyright and license

Copyright © 2015 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Ergül AT, Akyıldız S, Gökçe SB. Heterozygous Vitamin D Receptor Gene Polymorphism in an Heterozygous Vitamin D Receptor Gene Polymorphism in an Osteogenesis Imperfecta Type IV Case. Turk J Pediatr Dis [Internet]. 2015 Apr. 1 [cited 2025 Jul. 8];9(1):55-8. Available from: https://turkjpediatrdis.org/article/view/354