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- W4311876634 abstract "Abstract Background Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be characterized in detail. Case presentation Herein, we identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C > A, p.S1178X) in a sporadic 4-year-old Chinese girl, who presented with Claes-Jensen type-like phenotypes, such as moderate developmental delay, serious expressive language delay, short stature, microcephaly, and typical facial particularities. Moreover, X-chromosome inactivation (XCI) analysis showed no significant skewed X-inactivation. Conclusion The report expands the genotype of KDM5C variation in female patients, delineates the phenotype of affected females in this well-known X-linked disorder, and also reinforces the necessity to consider this X-linked gene, KDM5C, in sporadic female patients." @default.
- W4311876634 created "2023-01-02" @default.
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- W4311876634 date "2022-12-19" @default.
- W4311876634 modified "2023-10-07" @default.
- W4311876634 title "A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype" @default.
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- W4311876634 doi "https://doi.org/10.1186/s12883-022-03023-3" @default.
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