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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