ArticleMolecular biology reports2019
A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report.
Article in Molecular biology reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.Frontiers in genetics · 2023Article
- Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.Journal of pediatric genetics · 2022Article
- Wiedemann-Steiner Syndrome with a Pathogenic Variant inChildren (Basel, Switzerland) · 2021Article
- Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report.Molecular syndromology · 2021Article
- Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Wiedemann-Steiner Syndrome (WSS) is a very rare autosomal dominant disease. Mutations in the KMT2A gene have been shown to cause this disease. A 1-year-old Chinese boy exhibited growth delay, psychomotor retardation, limb hypotonia and facial dysmorphism that was consistent with WSS. His body weight started to drop below the normal range at 3 months old, and the decline persisted. Whole-exome sequencing showed a novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A, which confirmed the diagnosis of WSS. We diagnosed a Chinese boy who presented postnatal growth retardation with WSS caused by a novel de novo mutation in KMT2A. Our findings expand the mutational and phenotypic spectra of WSS and will be valuable for the mutation-based pre- and postnatal screening for and genetic diagnosis of WSS.
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