Abstract: The clinical characteristics, genetic mutation and the results of gene sequencing of a child with KMT2A mutation-associated Wiedemann-Steiner syndrome（WSS）complicated with rapidly progressive puberty are retrospectively analyzed, who visited Tongji Hospital，Tongji Medical College，Huazhong University of Science and Technology in August 2023, and the related literature materials are reviewed. The patient , an 11-year-old boy，visited the hospital for “excessive weight gain for 3 years”. The 17-hydroxyprogesterone（17-OHP），dehydroepiandrosterone sulfate（DHEA-S），adrenocorticotropic hormone（ACTH），androstenedione（AN），insulin-like growth factor-1（IGF-1），and IGF-binding protein-3（IGFBP-3）were higher than the normal level. Whole-exome sequencing identified a heterozygous frameshift variant c.2078delG in the KMT2A gene on chromosome 11，classified as pathogenic according to ACMG criteria（PVS1+PM2+PM6+PP4），which could cause autosomal dominant Wiedemann-Steiner syndrome. It is a novel KMT2A frameshift variant c.2078delG that has not been described previously in the literature.

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摘要： 回顾性分析2023年8月于华中科技大学同济医学院附属同济医院就诊的1例KMT2A基因突变导致的Wiedemann-Steiner综合征（Wiedemann-Steiner Syndrome，WSS）合并快进展型青春期患儿的临床特点和基因突变情况及基因测序结果，并对相关文献资料进行复习。患儿，男，11岁，因“体重增长过快3年”就诊。患儿17羟孕酮（17-OH-P）、硫酸脱氢表雄酮（DHEA-S）、促肾上腺皮质激素（ACTH）、雄烯二酮（AN）、胰岛素样生长因子-1（IGF-1）、胰岛素样生长因子结合蛋白-3（IGFBP-3）高于正常水平；全外显子基因测序结果提示：患儿11号染色体上KMT2A基因中c.2078delG位点出现杂合移码突变，该处突变为致病突变（ACMG 标准PVS1+PM2+PM6+PP4），可导致常染色体显性遗传的Wiedemann-Steiner综合征，是此前未见文献报道的、新发KMT2A基因c.2078delG位点移码突变。

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