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IV型成骨不全症：COL1A2基因中第560位（c.560，G > T；p.Gly187Val）新发现的变异。

Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.

作者信息

Usta Akin, Karademir Dilay, Sen Eylem, Yazici Selcuk, Adali Ertan, Erdem Erkan, Karacan Meric

机构信息

Department of Obstetrics and Gynecology, School of Medicine, Balikesir University, Balikesir,Turkey.

Department of Pediatrics, Balikesir Ataturk State Hospital, Balikesir,Turkey.

出版信息

Pan Afr Med J. 2017 Jul 14;27:198. doi: 10.11604/pamj.2017.27.198.12295. eCollection 2017.

DOI:10.11604/pamj.2017.27.198.12295
PMID:28904723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5579436/
Abstract

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187. The pregnancy follow-up was uneventful. After delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.

摘要

成骨不全症是一种临床异质性疾病，由与COL1A1或COL1A2基因突变相关的胶原蛋白合成缺陷引起。在本报告中，我们介绍了一例IV型成骨不全症（OI）病例，该病例发生在一名妊娠18周时股骨弯曲的女性胎儿身上。对新生儿的分子分析显示，COL1A2基因第12外显子的c.560位置（c.560 G>T）发生了新的突变；这导致第187密码子处的甘氨酸被缬氨酸取代（p.Gly187Val）。孕期随访顺利。分娩后，新生儿接受了双膦酸盐治疗，直到1岁时未检测到骨折。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b347/5579436/0bfcb07f4e16/PAMJ-27-198-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b347/5579436/5fba44fb1fcd/PAMJ-27-198-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b347/5579436/0bfcb07f4e16/PAMJ-27-198-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b347/5579436/5fba44fb1fcd/PAMJ-27-198-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b347/5579436/0bfcb07f4e16/PAMJ-27-198-g002.jpg

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