产前诊断胎儿骨骼畸形FGFR3合并FLNB基因突变1例及文献学习

Prenatal Diagnosis of Fetal Bone Malformation FGFR3 Combined with FLNB Gene Mutation in a Case and Literature Study

目的分析胎儿软骨发育不全的超声、放射线表现及基因检测,提高胎儿软骨发育不全的产前诊断,研究基因-表型关系,为临床遗传咨询提供指导。方法分析该院2018年收治的1例胎儿骨骼发育异常的病例,同时进行相关文献学习。结果①超声提示胎儿BPD及HC大于相应孕周2SD,FL及HL均小于相应孕周4SD以上,前额饱满,羊水过多。②胎儿染色体正常,胎儿全外显子基因检出FGFR3基因致病性突变及FLNB基因杂合变异。③引产胎儿放射线检查提示前额饱满、头颅较大、四肢短小、胸廓狭窄。结论通过超声检查、放射线检查、染色体及全外显子测序,诊断1例ACH病例,检出FLNB基因新发位点突变,不排除为AO1的发病位点,为骨骼发育不良的基因谱提供借鉴,为临床遗传咨询提供指导。

Objective To analyze the ultrasound,radiographic and genetic testing of fetal achondroplasia,improve the prenatal diagnosis of fetal achondroplasia,study the gene-phenotype relationship,and provide guidance for clinical genetic counseling.Methods To analyze a case of fetal skeletal dysplasia admitted to the hospital in 2018,and conduct related literature study.Results 1.Ultrasound showed that the fetus's BPD and HC were greater than 2SD of the corresponding gestational week,FL and HL were both less than 4SD of the corresponding gestational week,the forehead was full,and the amniotic fluid was excessive.2.The chromosomes of the fetus are normal,and pathogenic mutations in the FGFR3 gene and heterozygous mutations in the FLNB gene are detected in the fetal entire exon genes.3.Radiographic examination of the induced fetus showed a full forehead,a large head,short limbs,and a narrow thorax.Conclusion The study diagnosed an ACH case through ultrasound,radiography,chromosome and whole-exome sequencing,and detected a new mutation in the FLNB gene,which is not excluded as the onset of AO1,which is a gene for skeletal dysplasia spectrum provides reference and guidance for clinical genetic counseling.