Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review

Thanatophoric dysplasia (TD) is caused by mutation of the gene that encodes fibroblast growth factor 3 (FGFR3). Owing to the poor prognosis for TD, prenatal diagnosis is critical to optimal perinatal management. We report here a case of TD in twin pregnancy, which was prenatally diagnosed by DNA analysis following amniocentesis at 15 weeks, and was managed by selective fetal termination. Prenatal ultrasonography and molecular analysis to detect TD-specific mutations enable accurate diagnosis of FGFR3-related TD in utero and appropriate obstetrical management at early gestation during twin pregnancy.

Effect of lead exposure on gene expression of Fgf3 in zebrafish embryonic development / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the effect of lead exposure on the gene expression of fibroblast growth factor 3 (Fgf3) in zebrafish embryonic development and the mechanism of lead-induced embryonic developmental toxicity.</p><p><b>METHODS</b>The embryos of zebrafish (wild types A and B) were exposed to lead acetate (PbAc) at the doses of 0, 0.1, 0.5, 2.5, and 12.5 µmol/L separately. Total RNA was extracted from each treatment group of zebrafish embryos at 8, 12, 16, 24, 36, 48, and 72 hours post fertilization (hpf). The total mRNA expression of Fgf3 was measured by real-time quantitative PCR. The spatial expression of Fgf3 in zebrafish embryos was determined by whole-mount in situ hybridization using synthesized Fgf3 RNA probe.</p><p><b>RESULTS</b>The mRNA expression of Fgf3 in each group peaked at 12 hpf (P < 0.01). With the increase in PbAc concentration, the mRNA expression of Fgf3 rose. Compared with the mRNA expression level of Fgf3 in the control group, the relative mRNA expression levels of Fgf3 in the 0.1, 0.5, 2.5, and 12.5 µmol/L PbAc exposure groups were 1.02 ± 0.24, 1.05 ± 0.26, 1.22 ± 0.46, and 1.25 ± 0.38, respectively, and the 2.5 and 12.5 µmol/L PbAc exposure groups showed significantly higher Fgf3 expression than the control group (P < 0.05). The whole-mount in situ hybridization results showed that Fgf3 expression occurred mainly in the head and tail in the early stage of embryonic development and in the midbrain, fin bud, and pharyngeal arch in the middle/late stage of embryonic development; there were the most significant regions and intensities of positive hybridization signals at 12 hpf; but no significant differences were found between the control group and exposure groups in the location and intensity of Fgf3 expression</p><p><b>CONCLUSION</b>Lead exposure can result in the upregulation of Fgf3 expression in zebrafish embryonic development, which might contribute to lead-induced embryonic developmental toxicity.</p>

Association between fibroblast growth factor 3 polymorphism and non-syndromic oral clefting / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the association between fibroblast growth factor 3 (FGF3) gene rs4980700 and rs4631909 polymorphism and non-syndromic oral clefting (NSOC).</p><p><b>METHODS</b>Blood samples from 186 NSOC patients, patients' parents and 200 controls were collected. DNA was extracted and PCR-restriction fragment length polymorphism (PCR-RFLP) was used to identify genotypes of the samples. Case-control analyses and transmission disequilibrium test (TDT) and family based association test (FBAT) analyses were also carried out.</p><p><b>RESULTS</b>In case-control analysis, there were significant differences in rs4980700 genotype and allele among NSOC patients compared with the control group (P < 0.05) and there were significant differences in rs4631909 genotype and allele among NSOC patients compared with the control group (P < 0.05), but no difference in cleft palate only (P = 0.49). In TDT, the G allele of rs4980700 had an overtransmission (P < 0.05) and the C allele of rs4631909 had an overtransmission (P < 0.05) in NSOC. FBAT analysis also showed a significant association between FGF3 gene rs4980700, rs4631909 polymorphism and NSOC.</p><p><b>CONCLUSION</b>FGF3 gene rs4980700 and rs4631909 polymorphism were associated with NSOC.</p>