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  • Title: [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Author: Zhao J, Yang X, Li J, Wang H, Zhang W, Fang F.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):421-424. PubMed ID: 35446980.
    Abstract:
    OBJECTIVE: To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease. METHODS: The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics. RESULTS: The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent. CONCLUSION: The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.
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