Three Novel Mutations of Microphthalmos Identified in Two Chinese Families  

作　　者：Yating Tang Jie Xu Yi Lu Tianyu Zheng 

机构地区：[1]Department of Ophthalmology and Eye Research Institute,Eye and ENT Hospital of Fudan University,Shanghai 200031,China [2]NHC Key Laboratory of Myopia(Fudan University),Key Laboratory of Myopia,Chinese Academy of Medical Science,Shanghai,200031,China [3]Shanghai Key Laboratory of Visual Impairment and Restoration,Shanghai 200031,China

出　　处：《Phenomics》2022年第4期254-260,共7页表型组学（英文）

基　　金：This study was supported by grants for Natural Science Foundation of China(NSFC 81670835 and NSFC 81600719);the Shanghai Science and Technology Commission(11231200602);the Visual Impairment and Reconstruction Key Laboratory of Shanghai(12DZ2260500).

摘　　要：Genetic alterations are a major cause of microphthalmos,while novel-related genes and mutations in microphthalmos have rarely been explored.To identify the underlying genetic defect responsible for microphthalmos eyes in two three-generation Chinese families,we screened 425 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the two probands of two three-generation Chinese families diagnosed with microphthalmos.Variants were filtered and analyzed to identify possible disease-causing variants before Sanger sequencing validation.We enrolled two families with microphthalmos(Family 1:microphthalmos with congenital ocular coloboma and Family 2:simple microphthalmos).Two novel heterozygous mutations,Peroxidasin(PXDN)c.3165C>T(p.Pro1055Pro)and PXDN c.2640C>G(p.Arg880Arg),were found in Family 1,and Crystallin Beta B2(CRYBB2)c.481G>A(p.Gly161Arg)was found in Family 2,but none of the mutations were found in the unaffected individuals,who were phenotypically nor-mal.Multiple orthologous sequence alignment(MSA)revealed that the CRYBB2 p.Gly161Arg mutation was a deleterious effect mutation.In conclusion,the three novel mutations found in our study extend our current understanding of the genetic basis of microphthalmos and provide early pre-symptomatic diagnosis and emphasize the significance of genetic diagnosis of microphthalmos.

关 键 词：MICROPHTHALMOS Gene mutation Next-generation sequencing PXDN CRYBB2 

分 类 号：R771.1[医药卫生—眼科] R394[医药卫生—临床医学]