Objective： Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. Methods： A comprehensive physical examination was performed on the proband to exclude ...Objective： Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. Methods： A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audi- ological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband＇s peripheral blood leukocytes. Polymerase chain reactions （PCR） were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. Results： The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation （c.530C 〉 A （p.S 177X）） in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function. Conclusion： Through analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene.展开更多
Granulation tissue-type hemangiomas are rare benign vascular lesions that mainly affect the head,neck,and hands.In 75% of the cases,the lesion shows a striking predilection for the mucosa,while skin is the second comm...Granulation tissue-type hemangiomas are rare benign vascular lesions that mainly affect the head,neck,and hands.In 75% of the cases,the lesion shows a striking predilection for the mucosa,while skin is the second common site for the lesions.Granulation tissue-type hemangiomas occur upon various stimuli such as chronic low-grade irritation,traumatic injury,and hormonal factors.The lesions occur predominantly in young females,possibly triggered by a vascular effect due to hormonal changes.They range in size from a few millimeters to several centimeters and can grow rapidly with frequently bleeding.The purpose of this article is to present a case of granulation tissue-type hemangioma and to briefly review the current literature for this condition.展开更多
基金supported by Chinese National Nature Science Foundation(81230020)grant from Minister of Science and Technology of China(2012BAI09B02)to P.D.+2 种基金Chinese National Nature Science Foundation(81371098)Beijing Natural Science Foundation(7132177)Beijing Nova programme(2009B34)to Y.Y.Y
文摘Objective： Based on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology. Methods： A comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audi- ological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband＇s peripheral blood leukocytes. Polymerase chain reactions （PCR） were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene. Results： The proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation （c.530C 〉 A （p.S 177X）） in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function. Conclusion： Through analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene.
基金This study was supported by tile grants from the Chinese National Nature Science Foundation （No. 81371098）, the Beijing Natural Science Foundation （No. 7132177）, and the Beijing Nova program （No. 2000B34）.
文摘Granulation tissue-type hemangiomas are rare benign vascular lesions that mainly affect the head,neck,and hands.In 75% of the cases,the lesion shows a striking predilection for the mucosa,while skin is the second common site for the lesions.Granulation tissue-type hemangiomas occur upon various stimuli such as chronic low-grade irritation,traumatic injury,and hormonal factors.The lesions occur predominantly in young females,possibly triggered by a vascular effect due to hormonal changes.They range in size from a few millimeters to several centimeters and can grow rapidly with frequently bleeding.The purpose of this article is to present a case of granulation tissue-type hemangioma and to briefly review the current literature for this condition.
