Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient.
Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient.
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DOI：
10.4103/1817-1745.165659
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发表时间：
2015-07
影响因子：
0.5
通讯作者：
Das S
中科院分区：
文献类型：
--
作者：
Barik M;Bajpai M;Malhotra A;Samantaray JC;Dwivedi S;Das S
颅缝早闭（CS）综合征是一种常染色体显性遗传疾病，典型地结合了颅缝早闭和非综合征性颅缝早闭与手和脚的手指异常。大多数病例是由FGFR 2的第三免疫球蛋白样结构域（IgIII）中的杂合突变引起的，而大量病例可归因于该蛋白质区域外的突变。目的：探讨FGFR 1、FGFR 2、FGFR 3、FGFR 4基因在颅缝早闭综合征中的表达。基于医院的前瞻性研究。对2007年12月至2015年1月在CS诊所登记的4个月至13岁患者的临床记录进行了前瞻性分析。我们在一个三代患有颅缝早闭综合征的印度家族中进行了遗传学研究。我们报告的第一次在一个三代印度家庭与颅缝早闭综合征引起的杂合错义突变，Thr 392 Thr和ser 311尝试，位于IgII域的FGFR 2的临床和遗传学研究结果。FGFR 3、4基因基础综合征（FGFR 3、FGFR 4 gene basis syndrome，FGFR 3、FGFR 4 gene basis syndrome，FGFR 3、FGFR 4 gene basis syndrome，FGFR 4 gene basis syndrome）被命名为FGFR 3、FGFR 4基因基础综合征。遗传学分析表明51/56个家系为无关家系。FGFR 3基因10/TM位点1172处C>A、Ala 391 Glu 19/56和Exon-19、5q35.2保守连接区核苷酸发生改变，25/56个家系发生246 Arg前改变。独立的遗传起源，但在51个家庭的表型相似性增加的证据支持自私的精原细胞选择性优势的理论，这种罕见的功能获得性FGFR 2突变。
Craniosynostosis (CS) syndrome is an autosomal dominant condition classically combining craniosynostosis and non-syndromic craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a larger number of cases can be attributed to mutations outside this region of the protein. To find out the FGFR1, FGFR2, FGFR3 and FGFR4 gene in craniosynostosis syndrome. A hospital based prospective study. Prospective analysis of clinical records of patients registered in CS clinic from December 2007 to January 2015 was done in patients between 4 months to 13 years of age. We have performed genetic findings in a three generation Indian family with Craniosynostosis syndrome. We report for the first time the clinical and genetic findings in a three generation Indian family with Craniosynostosis syndrome caused by a heterozygous missense mutation, Thr 392 Thr and ser 311 try, located in the IgII domain of FGFR2. FGFR 3 and 4 gene basis syndrome was eponymously named. Genetic analysis demonstrated that 51/56 families to be unrelated. In FGFR3 gene 10/TM location of 1172 the nucleotide changes C>A, Ala 391 Glu 19/56 and Exon-19, 5q35.2 at conserved linker region the changes occurred pro 246 Arg in 25/56 families. Independent genetic origins, but phenotypic similarities in the 51 families add to the evidence supporting the theory of selfish spermatogonial selective advantage for this rare gain-of-function FGFR2 mutation.