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  • Title: [Clinical and genetic analysis of a patient with Mowat-Wilson syndrome].
    Author: Zhang P, Hou Y, Liao P, Yuan X, Li N, Huang Q, Yang J.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May 10; 38(5):465-468. PubMed ID: 33974257.
    Abstract:
    OBJECTIVE: To summarize the clinical phenotype and genotype of a Chinese child affected with Mowat-Wilson syndrome (MWS). METHODS: Clinical data of the patient were collected. The patient was analyzed by whole-exome sequencing (WES) as well as Sanger sequencing. RESULTS: The patient was a male infant with recurrent fever and slow growth. He also had characteristic facies, recurrent spasm, and growth retardation. WES revealed that he has carried a heterozygous nonsense c.2609C>G (p.Ser870X) variant of the ZEB2 gene (30% mosaicism). Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+PS1+PS2+PM2). CONCLUSION: The c.2609C>G variant of the ZEB2 gene probably underlay the MWS in this child. The mosaicism of the variant may explain his mild symptoms.
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