一例由 KCNJ6基因新发变异导致的Keppen-Lubinsky综合征患儿的临床及遗传学分析

目的:探讨1例由 KCNJ6基因新发变异导致的Keppen-Lubinsky综合征患儿的临床及遗传学特点。 方法:应用全外显子组测序对患儿及其父母进行基因检测，并用生物信息学软件预测其危害性，并通过蛋白质结构模拟分析其影响。结果:患儿具有特殊面容，表现为大眼、鼻翼发育不全、小后缩下颌及早衰模样，同...

Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation

Objective To investigate the clinical characteristics and genetic basis for a child with Keppen-Lubinsky syndrome(KPLBS).Methods Trio-whole exome sequencing(Trio-WES)was carried out for the proband and her parents.Candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results The child has featured peculiar facies including large eyes,alar hypoplasia,microretrognathia,premature aging appearance in addition with growth delay and mental retardation.Trio-WES has identified that she has carried a de novo variant of the KCNJ6 gene,namely c.460G>C(p.Gly154Arg).The variant has not been recorded in the database.Prediction of protein structure indicated that the variant may affect the potassium ion selective filtration structure channel in the transmembrane region of KCNJ6 protein,which may result in up regulation of the function of the channel.Conclusion The de novo c.460G>C(p.Gly154Arg)variant of the KCNJ6 gene probably underlay the KPLBS in this child.Above finding has enriched the genotypic and phenotype spectrum of this syndrome.