RESUMEN
A 3-year-6-month-old boy presented with multiple asymptomatic banded white macules at birth, which expanded in proportion to his body, and deformity of his right thumb with slight dyskinesia. The patient showed difficulty in communication and concentration compared with children of the same age. The family history was unremarkable. The child had clear consciousness, passable spirits, and poor language ability. Physical examination revealed a special face and slight macrodactyly of the right thumb joints, and the heart, lung, and abdominal examination was otherwise normal. Skin examination showed multiple banded or confluent irregular white macules of varying sizes and slightly elevated plaques distributed along the Blaschko′s lines on the right chest, the flexor aspect of the right upper limb, the median line of the lower abdomen, and the right lower limbs, and banded brown macules on the palmar side of the right hand and radial aspect of the right thumb. Histopathological findings of the while macule on the lower limb were consistent with basaloid follicular hamartoma. Cranial magnetic resonance imaging revealed agenesis of the corpus callosum. Whole-exome sequencing of the lesional tissue showed a mutation c.1234C>T (p.L412F) in the SMO gene, which was not found in his parents. A diagnosis of Curry-Jones syndrome was made based on the skin lesions, and pathological and genetic findings. The mutation c.1234C>T (p.L412F) in the SMO gene may contribute to the disease. The patient continued functional exercises to improve the mobility of his right thumb, and underwent a close follow-up.
RESUMEN
AIM:To investigate the effect of Hedgehog(Hh) signaling pathway on the viability and apoptosis of cervical carcinoma cells by shRNA technique to knock down Smoothened (Smo) gene. METHODS:Smo shRNA was used to transfect the cervical carcinoma HeLa cells. The expression of Smo and Gli1 at mRNA and protein levels in the He-La cells was determined by RT-PCR and Western blot,respectively. The effect of Smo gene silencing on the growth of the cells was measured by MTT assay. The apoptosis and cell cycle were determined by flow cytometry. RESULTS:Compared with control group,the mRNA and protein expression of Smo and Gli1 were evenly reduced obviously after transfected with Smo shRNA for 72 h(P<0.05). The viability of HeLa cells transfected with Smo shRNA was significantly inhibited. The percentages of the cells in G0/G1phase and early apoptosis rate were obviously higher in Smo shRNA transfection group than those in control group. CONCLUSION:Smo gene silencing effectively inhibits the cell growth and induces the apop-tosis of human cervical carcinoma cells.