Table 2.
Kabuki syndrome features of the 10 patients
| Features | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
|---|---|---|---|---|---|
| Age of KS diagnosis | 2 months | 18 months | 6 months | 6 months | 1 year |
| Genotype | Mosaic hemizygous deletion of KDM6A exons 3–24 arr[hg19]Xp11.3(44818602_ 44947539)×0 | De novo deletion of KDM6A exons 7–17 arr[hg19] Xp11.3 (44892185_ 44935785)×1 | De novo KMT2D c.603_604dup (p. Gly202Alafs*7) | De novo KDM6A c.357C>G (p.Tyr119*) | De novo KMT2D c.11149C>T (p.Gln3717*) |
| Facial | Long palpebral fissures | Long eyelashes, low-set ears, protruding ear lobes | Long palpebral fissures with lateral eversion of eyelid | Long palpebral fissures, eversion of lateral third of lower eyelid, arched/sparse eyebrows, depressed/flat nasal tip, large/dysmorphic ears | Long palpebral fissures, short nasal septum, arching eyebrows |
| Eye | Left homonymous hemianopsia visual field defect, exotropia (since resolved), and bilateral hyperopia | Left-side strabismus | – | – | – |
| Oral | Thin upper lip vermilion | – | Thin upper lip vermilion | – | – |
| Skeletal | Hip dysplasia | – | Sacral dimple with hair tuft | Hip dysplasia | – |
| Hand | – | Fleshy finger pads | 5th finger clinodactyly, tapering fingers, abnormal palmar creases, fleshy finger pads | Fetal fingertip pads | – |
| Neurological | Congenital partial agenesis of the corpus callosum with right paramedian posterior interhemispheric cyst, developmental delay, seizures | Decreased symmetric muscle tone and strength | Developmental delay | Neonatal hypotonia | Hearing loss, developmental delay |
| Cardiovascular | Small atrial septal defect and resolving biventricular hypertrophy | – | – | – | Atrial septal defect |
| Gastrointestinal | Feeding difficulties and gastroesophageal reflux | – | Feeding difficulties | Feeding difficulties and gastroesophageal reflux | Feeding difficulties |
| Urogenital | – | – | Dysplastic left kidney, renal cysts in right | – | – |
| Endocrine | Short stature: height <5th percentile | – | Short stature: 5th percentile in height | Short stature | – |
| Features | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 |
| Age of KS diagnosis | 15–18 months | 9 months | 11 months | 7 months | 7 months |
| Genotype | De novo KMT2D c.709del (p. Glu237Serfs*24) | De novo KMT2D c.8366G>A (p.Arg2789Gln) | De novo KDM6A c.2074_2075del (p. Gln692Glyfs*37) | De novo KDM6A c.357C>G, (p.Tyr119*) | De novo KMT2D c.6613delinsAA, (p.Ala2205Asnfs*38) |
| Facial | Long palpebral fissures, short nasal septum, low set ear | Long palpebral fissures | Depressed nasal bridge | Long eyelashes | Arched eyebrows |
| Eye | – | – | Prominent eyes | – | Long eyelashes, blue sclerae |
| Oral | – | – | Small jaw | High arch palate, small jaw | |
| Skeletal | – | Sacral dimple | Left DDH with Pavlik harness | – | |
| Hand | – | – | – | Reduced subcutaneous fat | |
| Neurological | Hearing loss, developmental delay | Developmental delay | Sacral dimple | Truncal hypotonia, mild developmental delay | Developmentally delayed |
| Cardiovascular | – | One umbilical artery | PDA and small PFO with mild concentric LVH | – | Heart murmur, ventricular septal defect |
| Gastrointestinal | Feeding difficulties | Feeding difficulties | Feeding difficulties, cows milk protein intolerance | Feeding difficulties | Imperforate anus, GERD |
| Urogenital | – | – | – | – | Undescended testes |
| Endocrine | – | – | Premature thelarche | Poor weight gain and short stature | Low weight and height |
DDH developmental dysplasia of the hip, PDA patent ductus arteriosus, PFO patent foramen ovale, GERD gastroesophageal reflux disease
The reference sequence used for KDM6A is NM_021140.3. The reference sequence used for KMT2D is NM_003482.3