[A case report of Diets-Jongmans syndrome caused by a KDM3B gene variant].

Abstract excerpt

A 5-year-3-month-old boy presented with intellectual disability, autism spectrum disorder, short stature, long ears, large auricles, a broad nasal tip, a pointed chin, and cryptorchidism. Whole-exome sequencing revealed a de novo likely pathogenic heterozygous missense variant in KDM3B (c.5147T>C, p.Leu1716Pro), supporting a diagnosis of Diets‑Jongmans syndrome. This case further enriches the mutation spectrum of...

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