AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundatio...AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.METHODS:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all participants.The family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was extracted.Pathogenic genes were screened via whole exome sequencing(WES)and confirmed using Sanger sequencing.RESULTS:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb deformities.This pattern indicates autosomal dominant inheritance.Diagnosis was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(p.Trp79Leus*15),was identified in all patients via WES.The variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation guidelines.CONCLUSION:A novel frameshift mutation in the FGF10 gene is found in all patients.This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.展开更多
Objective： To observe the effects of different doses of acitretin on the transcription of FGF10 mRNA and the translation of FGF10 protein in cultured HaCaT cells. Methods： HaCaT cells were treated with different dos...Objective： To observe the effects of different doses of acitretin on the transcription of FGF10 mRNA and the translation of FGF10 protein in cultured HaCaT cells. Methods： HaCaT cells were treated with different doses of acitretin for 48 h, then the changes on the transcription of FGF10 mRNA and the translation of FGF10 protein in these cells were detected by immunofluorescence and in situ hybridization assay. Results： Compared with the control group, the transcription of FGF10 mRNA and the translation of FGF10 protein were gradually decreased along with the increasing dose of aeitretin. There were significant differences between different groups （P〈0.01）. Conclusion： Aeitretin could inhibit the transcription of FGF10 mRNA and the translation of FGF10 protein in HaCaT cells. With the dose of aeitretin increased, the stains of both FGF10 mRNA and FGF10 protein in HaCaT cells are reduced.展开更多
基金Supported by the Capital’s Funds for Health Improvement and Research (No.CFH.2020-2Z-5132)。
文摘AIM:To identify the pathogenic gene variant in a family with lacrimo-auriculo-dento-digital syndrome[LADD(MIM 149730)]showing congenital lacrimal duct dysplasia as the main clinical manifestation and lay the foundation for future research on the pathogenic gene.METHODS:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all participants.The family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was extracted.Pathogenic genes were screened via whole exome sequencing(WES)and confirmed using Sanger sequencing.RESULTS:Six patients belonged to this three-generation family,and their clinical manifestations included congenital nasolacrimal duct obstruction,congenital absence of lacrimal puncta and canaliculi,lacrimal fistulae,and limb deformities.This pattern indicates autosomal dominant inheritance.Diagnosis was based on the clinical characteristics of LADD syndrome,which presented in all the patients in this family.A novel frameshif t mutation in the FGF10 gene(NM_004465.1),c.234dup C(p.Trp79Leus*15),was identified in all patients via WES.The variant was confirmed by Sanger sequencing and classified as a“pathogenic mutation”according to the American College of Medical Genetics and Genomics(ACMG)variant interpretation guidelines.CONCLUSION:A novel frameshift mutation in the FGF10 gene is found in all patients.This finding helps this family with LADD syndrome receiving a more accurate clinical diagnosis and genetic counseling by extending the mutation range of the FGF10 gene.
基金Supported by the Shaanxi Youth Science Fund (No.2003K10-G56)
文摘Objective： To observe the effects of different doses of acitretin on the transcription of FGF10 mRNA and the translation of FGF10 protein in cultured HaCaT cells. Methods： HaCaT cells were treated with different doses of acitretin for 48 h, then the changes on the transcription of FGF10 mRNA and the translation of FGF10 protein in these cells were detected by immunofluorescence and in situ hybridization assay. Results： Compared with the control group, the transcription of FGF10 mRNA and the translation of FGF10 protein were gradually decreased along with the increasing dose of aeitretin. There were significant differences between different groups （P〈0.01）. Conclusion： Aeitretin could inhibit the transcription of FGF10 mRNA and the translation of FGF10 protein in HaCaT cells. With the dose of aeitretin increased, the stains of both FGF10 mRNA and FGF10 protein in HaCaT cells are reduced.
