KDM5C基因变异致X连锁精神发育迟滞-Claes-Jensen型综合征1例报道及文献回顾

KDM5C Gene Mutation Causing X-Linked Intellectual Disability-Claese-Jensen Type Syndrome: A Case Report and Literature Review

目的:报道一例KDM5C基因变异致X连锁精神发育迟滞-Claes-Jensen型综合征的临床特征、基因突变位点以及治疗,并通过文献回顾加深广大医务工作者对该病的认识。方法:我们对2021年1月就诊于西京医院神经内科门诊的1例全面发育落后患者行3人家系全外显子组测序、全基因组拷贝数变异测序及Sanger测序验证。结果:先证者为KDM5C基因错义突变(c.145(exon 1)C>T, p.P49S(p. Pro49Ser) (NM_004187),其父母无该位点突变。根据美国医学遗传学与基因组学会(the American College of Medical Genetics and Genomics, ACMG)指南变异分类标准评定为可能致病性变异(PS2 + PM1 + PM2 + PP3)。结论:本病例KDM5C基因突变(c.145(exon 1)C>T, p.P49S(p. Pro49Ser)可能是X连锁精神发育迟滞-Claes-Jensen型综合征的致病性变异。基因检测有助于该病分子学诊断。

Objective: To report KDM5C gene variant causing X-linked mental retardation-Claes-Jensen type syndrome with clinical features, mutation loci, and treatment, and review the literature to improve the understanding of the disease among medical professionals. Method: In January 2021, a patient who visited the outpatient Neurology Department of Xijing Hospital with the complaint of develop-mental delay, performing trio-whole exome sequencing (trioWES), trio-copy number variation se-quencing (trioCNVseq) and verifying Sanger sequencing. Result: The KDM5C gene (c.145 (exon 1)C>T, p.P49S(p. Pro49Ser) (NM_00418 7) was a missense mutation in the proband, but his parents had no mutation at the same locus. According to American College of Medical Genetics and Genomics guidelines, the mutation was likely pathogenic mutations (PS2 + PM1 + PM2 + PP3). Conclusion: The KDM5C gene (c.145(exon 1)C>T, p.P49S(p. Pro49Ser) (NM_00418 7) may be a pathogenic variant of the X-linked intellectual disability-Claes-Jensen syndrome. Genetic tests help in the molecular di-agnosis of the disease.