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Clinical features of Wiedemann-Steiner syndrome:a case analysis and literature review
ZHANG Hao-tian, DU Cai-qi, LIANG Yan, et al
2026, 41(5):
435-440.
DOI: 10.19538/j.ek2026050615
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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