Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen.
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DOI：
10.1038/s41436-018-0307-y
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发表时间：
2019-05
期刊：
影响因子：
--
通讯作者：
Marini JC
中科院分区：
文献类型：
--
作者：
Barber LA;Abbott C;Nakhate V;Do AND;Blissett AR;Marini JC
生长缺陷是III型和IV型成骨细胞（OI）的主要特征，由I型胶原的致病性变体引起。需要OI特定的纵向生长图表用于患者护理。我们收集了100名III型和IV型OI和已知I型胶原致病变异的儿童的纵向长度、体重、头围和体重指数（BMI）数据。使用多水平模型检查了性别、OI类型和致病变异的影响。使用位置、尺度和形状的广义加性模型（GAMLSS）构建OI特异性百分位数曲线。OI类型和性别，而不是特定的突变胶原基因，显着影响身高，但只有OI类型影响体重。头围在性别、类型或突变基因上没有显著差异。在两种性别中，III型和IV型OI的长度曲线重叠，IV型第95百分位数曲线与一般人群的美国疾病控制和预防中心（CDC）曲线重叠。III/IV型OI的青春期生长突增通常不存在或变钝。两种性别的体重指数第50和第95百分位数曲线明显高于各自的US CDC曲线。OI类型是OI生长的一个比性别更强的贡献因素，而COL 1A 1与COL 1A 2致病性变体的曲线没有差异。提供了III型和IV型OI特异性生长曲线。
Growth deficiency is a cardinal feature of osteogenesis imperfecta (OI) types III and IV, caused by pathogenic variants in type I collagen. OI-specific longitudinal growth charts are needed for patient care. We compiled longitudinal length, weight, head circumference, and body mass index (BMI) data from 100 children with types III and IV OI and known type I collagen pathogenic variants. Effects of gender, OI type, and pathogenic variant were examined using multilevel modeling. OI-specific centile curves were constructed using generalized additive model for location, scale, and shape (GAMLSS). OI type and gender, but not the specific mutated collagen gene, significantly affect stature, but only OI type affects weight. Head circumference was not significantly different by gender, type, or mutated gene. In both genders, length curves for types III and IV OI overlap and the type IV 95th centile curve overlaps the lower US Centers for Disease Control and Prevention (CDC) curves for the general population. A pubertal growth spurt is generally absent or blunted in types III/IV OI. The body mass index 50th and 95th centile curves are distinctly shifted above respective US CDC curves in both genders. OI type is a stronger contributing factor than gender for OI growth, while curves do not differ for COL1A1 versus COL1A2 pathogenic variants. Types III and IV OI-specific growth curves are presented.
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影响因子：
5.2
作者：
Lund, AM;M端ller, J;Skovby, F
通讯作者：
Skovby, F
DOI：
10.1002/ajmg.a.32508
发表时间：
2008-11-01
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Obafemi AA;Bulas DI;Troendle J;Marini JC
通讯作者：
Marini JC
影响因子：
5.2
作者：
Myrelid, Å;Gustafsson, J;Annerén, G
通讯作者：
Annerén, G
影响因子：
4.1
作者：
Sato, Atsuko;Ouellet, Jean;Rauch, Frank
通讯作者：
Rauch, Frank
影响因子：
1.7
作者：
GarciaRudaz, C;Martinez, AS;Bergada, C
通讯作者：
Bergada, C