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  • Title: [Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].
    Author: Xin H, Zhao J, Lyu Y, Yang Y, Li Z, Gai Z, Liu Y.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar 10; 39(3):316-320. PubMed ID: 35315044.
    Abstract:
    OBJECTIVE: To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome). METHODS: Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents. RESULTS: NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent. CONCLUSION: The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.
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