FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry
复制标题
DOI：
10.1002/mgg3.96
复制
发表时间：
2014-11-01
影响因子：
2
通讯作者：
Wilcox, William R.
中科院分区：
文献类型：
--
作者：
Xue, Yuan;Sun, Angela;Wilcox, William R.
成纤维细胞生长因子受体3 （FGFR3）是已知唯一导致软骨发育不全（ACH）、软骨发育不全（HCH）和1型和2型脂肪代谢不良（TD I和TD II）的基因。另一种尚未确定的基因也会导致HCH。在这项研究中，我们使用测序分析来确定来自国际骨骼发育不良登记处（ISDR）的324例中每种表型的FGFR3突变频率。我们的数据表明，ACH和HCH之间存在相当大的基因型和表型重叠。因此，当怀疑是乙酰胆碱或HCH时，检测在任何一种疾病中发现的突变是很重要的。29例HCH患者中只有2例未发现FGFR3突变，比先前报道的少得多。我们建议检测FGFR3中的其他突变，而不仅仅是常见的HCH突变p.Asn540Lys。还报道了迄今为止最大系列病例中TD I和TD II的突变频率。本研究为临床诊断实验室和临床医生提供了关于四种骨骼发育不良的FGFR3突变频率的有价值信息。
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the frequency of FGFR3 mutations for each phenotype in 324 cases from the International Skeletal Dysplasia Registry (ISDR). Our data suggest that there is a considerable overlap of genotype and phenotype between ACH and HCH. Thus, it is important to test for mutations found in either disorder when ACH or HCH is suspected. Only two of 29 cases with HCH did not have an identified mutation in FGFR3, much less than previously reported. We recommend testing other mutations in FGFR3, instead of just the common HCH mutation, p.Asn540Lys. The mutation frequency for TD I and TD II in the largest series of cases to date are also reported. This study provides valuable information on FGFR3 mutation frequency of four skeletal dysplasias for clinical diagnostic laboratories and clinicians.