A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.
BMC Neurol, 2022/12/19;22(1):491.
Shen R[1], Li Y[2], Liang A[3], Li S[1], Yang C[1], Huang H[4]
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PMID: 36536324DOI: 10.1186/s12883-022-03023-3
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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.
Keywords: Case report; Female; KDM5C gene; Phenotype; X-linked disorder
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