Journal of Shandong University (Health Sciences) ›› 2024, Vol. 62 ›› Issue (6): 76-81.doi: 10.6040/j.issn.1671-7554.0.2023.1067

• Clinical Medicine • Previous Articles    

Clinical features and genetic analysis of three cases of Wiedemann-Steiner syndrome with KMT2A gene variants

WANG Mengqin1,2, ZHANG Yaodong2, CHEN Jiajia3, ZHANG Zixia1, HU Jiaqian1, WANG Xi1, ZHAO Yixuan1, ZHANG Yingxian1, WEI Haiyan1, CHEN Yongxing1   

  1. 1. Department of Endocrinology, Genetics and Metabolism, Zhengzhou Childrens Hospital, Henan Children’s Hospital, Chidrens Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, Henan, China;
    2. Henan Key Laboratory of Childrens Genetics and Metabolic Diseases, Henan Childrens Neurodevelopment Engineering Research Center, Zhengzhou 450018, Henan, China;
    3. Department of Endocrinology, Genetics and Metabolism, Beijing Childrens Hospital, Capital Medical University, National Center for Childrens Health, Beijing 100045, China
  • Published:2024-07-15

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Abstract: Objective To explore the clinical characteristics and genetic etiology of 3 children with Wiedemann-Steiner syndrome(WSS)and to improve the understanding of the disease. Methods A retrospective analysis was conducted on the general data, clinical characteristics, laboratory tests such as growth hormone stimulation test, and imaging examinations such as pituitary magnetic resonance imaging of three children with WSS who visited Chidrens Hospital Affiliated to Zhengzhou University from August 2016 to July 2022. Recombinant human growth hormone(rhGH)treatment was performed, and genetic testing was conducted on the proband and family. Results Among the 3 patients, 2 were males and 1 was female, aged 4.8 to 11.3 years. All patients were diagnosed with short stature, accompanied by intellectual disability, special facial features, and hirsutism. Growth hormone stimulation test results showed that the case 3 had growth hormone deficiency with significantly delayed bone age. All case showed normal pituitary magnetic resonance imaging, then received rhGH treatment for 1 to 5 years. The height increased by 0.9 SD, 1 SD, and 2.2 SD, respectively, with case 3 followed up to a lifetime height of 157.9 cm. Genetic testing results showed heterozygous mutations in the KMT2A gene. The results showed heterozygous deletions of 2.5 Kb fragments in the chr11:118353970-118356519 region, c.11081delp.K3694Sfs*3, and c.5803-3T>G. All three gene mutations were newly reported. The final diagnoses were WSS. Conclusion For children with delayed growth and development, intellectual disability, special facial features and hirsutism, WSS should be considered. This study broadens the variant spectrum and clinical phenotypic spectrum of the KMT2A gene.

Key words: Wiedemann-Steiner syndrome, Recombinant human growth hormone, KMT2A gene

CLC Number: 

  • R725
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