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Table 1 Summary of clinical and genotypic features of 2 Chinese children with KS

From: Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

Case ID Patient 1 Patient 2
Gender M M
Age at diagnosis (months) 26 5
Elongated palpebral fissures + +
Eversion of the lateral third of the lower eyelid + +
Laterally sparse eyebrows + +
Depressed nasal tip + +
Micrognathia + +
Abnormal dentition + -
Spinal column abnormalities + +
Joint hypermobility/dislocation - +
Single palmar crease + +
Clinodactyly of fifth digits + +
Postnatal growth deficiency + +
Genitourinary anomalies + +
Cerebellar vermis dysplasia - +
Hypotonia + +
Motor delay + +
Feeding problem + -
Recurrent infection + -
Causing gene KMT2D KMT2D
Exon 22 31
Mutation c.5235delA c.7048G>A
Amino-acid change p.(A1746Lfs*39) p.(Q2350*)
Mutation type Frameshift Nonsense
Novelty Novel Novel
  1. Abbreviations: M, male; +, present; -, absent