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Identification of a novel mutation in the fgf10 gene in a Chinese family with obvious congenital lacrimal duct dysplasia in lacrimo-auriculo-dento-digital syndrome

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International Journal of Ophthalmology(English edition) 2023年第4期16卷 499-504页

作者： Hong-Yang Zhang Chun-Yan Zhang Fei Wang Hai Tao Ya-Ping Tian Xi-Bin Zhou Fang Bai Peng Wang Jia-Yi Cui Min-Jie Zhang Li-Hua Wang Senior Department of Ophthalmology the Third Medical CenterChinese PLA General HospitalBeijing 100039China Center for Birth Defects Prevention and Control Technology Research and Innovation Chinese PLA General HospitalBeijing 100853China

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 ***:Ophthalmological examinations,including slit-lamp biomicroscopy and lacrimal duct probing,and computed tomography dacryocystography(CT-DCG)were performed for all *** family pedigree was drawn,genetic features were analyzed,and the genomic DNA of the subjects was *** genes were screened via whole exome sequencing(WES)and confirmed using Sanger ***: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 *** pattern indicates autosomal dominant *** 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(***79Leus*15),was identified in all patients via *** 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 ***:A novel frameshift mutation in the fgf10 gene is found in all *** 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.

关键词： fgf10 gene frameshift mutation congenital lacrimal duct dysplasia LADD syndrome pedigree

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