Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

被引：5

作者：

Tanner, Laura ^{[1
,2
]}

Vainio, Paula ^{[3
,4
]}

Sandell, Minna ^{[5
,6
]}

Laine, Jukka ^{[3
,4
]}

机构：

[1] Turku Univ Hosp, Dept Clin Genet, POB 52, FI-20521 Turku, Finland

[2] Univ Turku, Dept Med Biochem & Genet, Turku, Finland

[3] Univ Turku, Dept Pathol, Turku, Finland

[4] Publ Util Tyks Sapa, Pathol Unit, Turku, Finland

[5] Univ Turku, Dept Radiol, Turku, Finland

[6] Publ Util Tyks Sapa, Radiol Unit, Turku, Finland

来源：

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 2017年 / 20卷 / 05期

关键词：

skeletal dysplasia; osteogenesis imperfecta; prenatal diagnosis; type I collagen; COL1A1; mutation; I COLLAGEN; PHENOTYPE;

D O I：

10.1177/1093526616686903

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Osteogenesis imperfecta is a genetically and clinically heterogenous group of skeletal dysplasias characterized by bone fragility. Its severity ranges from nearly asymptomatic individuals to perinatal lethality. The majority of cases are caused by mutations in either the COL1A1 or the COL1A2 gene coding for alpha 1 and alpha 2 chains of collagen type 1, respectively, and a large number of pathogenic variants of these genes has been identified. We describe a novel COL1A1 mutation associated with prenatally diagnosed severe form of osteogenesis imperfecta.

引用

页码：455 / 459

页数：5

共 50 条

[21] A novel de novo mutation in COL1A1 leading to osteogenesis imperfecta confirmed by zebrafish model
Huang, Huan
Liu, Jiamei
Zhang, Guoying
CLINICA CHIMICA ACTA, 2021, 517 : 133 - 138
[22] Osteosclerotic variant of osteogenesis imperfecta with a mutation in the C-propeptide region of COL1A1 gene
Hori, Naoaki
Nishimura, Gen
Takagi, Masaki
Chinen, Yasutsugu
Kurosawa, Kenji
Tanaka, Yukichi
Oku, Kikuko
Hasegawa, Tomonobu
HORMONE RESEARCH, 2009, 72 : 223 - 224
[23] Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
Binh Ho Duy
Zhytnik, Lidiia
Maasalu, Katre
Kandla, Ivo
Prans, Ele
Reimann, Ene
Martson, Aare
Koks, Sulev
HUMAN GENOMICS, 2016, 10 : 27
[24] Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
Binh Ho Duy
Lidiia Zhytnik
Katre Maasalu
Ivo Kändla
Ele Prans
Ene Reimann
Aare Märtson
Sulev Kõks
Human Genomics, 10
[25] Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta
Stephen, Joshi
Shukla, Anju
Dalal, Ashwin
Girisha, Katta Mohan
Shah, Hitesh
Gupta, Neerja
Kabra, Madhulika
Dabadghao, Preeti
Phadke, Shubha R.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (06) : 1482 - 1489
[26] Osteogenesis imperfecta: Hearing and genetic study of a family with a mutation in the COL1A1 gene
Acle-cervera, Leticia
Corriols-Noval, Patricia
Gil-Aguilar, Maria Teresa
Fontalva-Romero, Ana
Morales-Angulo, Carmelo
REVISTA ORL, 2019, 10 (02): : 103 - 108
[27] Osteogenesis imperfecta type 1: A case presentation with a new mutation in gene COL1A1
Siegert, T
Klein, HG
Marschall, C
Schmidt, H
KLINISCHE PADIATRIE, 2004, 216 (02): : 91 - 93
[28] A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family
Peng, Hao
Zhang, Yuhui
Long, Zhigao
Zhao, Ding
Guo, Zhenxin
Xue, Jinjie
Xie, Zhiguo
Xiong, Zhimin
Xu, Xiaojuan
Su, Wei
Wang, Bing
Xia, Kun
Hu, Zhengmao
GENE, 2012, 502 (02) : 168 - 171
[29] A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
Tongkobpetch, Siraprapa
Limpaphayom, Noppachart
Sangsin, Apiruk
Porntaveetus, Thantrira
Suphapeetiporn, Kanya
Shotelersuk, Vorasuk
GENETICS AND MOLECULAR BIOLOGY, 2017, 40 (04) : 763 - 767
[30] A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature
Lu, Yurong
Tian, Yijia
Liu, Jinxiu
Wang, Yifan
Wang, Xietong
AJP REPORTS, 2024, 14 (03): : e215 - e223

← 1 2 3 4 5 →

Novel COL1A1 Mutation c.3290G &gt; T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus

Novel COL1A1 Mutation c.3290G > T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus