Table 3 Clinical and genetic characteristics of affected individuals with KMT2C variants
From: Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome
Ref | Gender, Age at Evaluation | Clinical characteristics | Other clinical characteristics | Unusual facies | MRI | KMT2C variants | Protein change | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
ID | DD | Hypotonia | ADHD | ASD | Anemia | |||||||
[10] | Female, 6y | + | + | + | + | + | + | Aggressiveness | Macrocephalic facies, broad and rounded forehead, hypertelorism, nose with a saddle bridge and bulbous tip, ligamentous hyperlaxity, and a café au lait spot on the left thigh | Minimal gliotic changes in bilateral occipital periventricular white matter | c.9244 C > T | p.Pro3082Ser |
[19] | Male, 9 m | - | + | - | + | + | + | Eczema, Feeding difficulty | Bushy brows, mandibular retrusion, and ear eczema | / | c.9284delC | p.Pro3095Lfs∗2 |
[22] | Male, 29y | + | + | - | - | + | - | Epilepsy, Scoliosis, Phenylketonuria, Recurrent respiratory infections | Flattened midface, prominent eyebrows, thick ear helices | / | c.5216del | p.Pro1739Leufs2 |
Male, 31y | + | + | - | - | + | - | Scoliosis, Strabismus, Cryptorchidism | / | / | c.7550 C > G | p.Ser2517 | |
Male, 15y | + | + | + | + | + | - | Bilateral inguinal hernia | Prominent eyebrows, thick ear helices | Normal | c.1690 A > T | p.Lys564 | |
Female, 7y | + | + | - | + | - | Sleeping disorder, Recurrent respiratory infections, Dry skin, Hoarse voice | Flattened midface, everted lower lip | Normal | c.10812_10815del | p.lys3605fs | ||
Female, 10y | + | + | + | + | - | - | Epilepsy, Scoliosis, Plagiocephaly | / | Nonprogressive enlarged extracerebral space | Chr7: 151,858,920–152,062,163 De novo deletion | / | |
Female, 15y | + | + | + | - | - | - | Hyperactivity, Aggressiveness | / | / | c.4441 C > T | Arg1481* | |
[20] | Male, 8 m | - | + | - | - | - | - | Epilepsy, Short-statured, Microcephalic, | Bypertelorism, brachycephaly, mid-face hypoplasia, everted lower lip and head-tilt to the left side | Thinning of corpus callosum | c.7247_7258del | His2416_Pro2419del |
[33] | Male, 3y | + | + | - | - | + | - | Sensory sensitivity, Feeding difficulty, Hyperactivity, Restlessness | Flattened midface, prominent eyebrows, a high pal-ate, a short nose, and downslanting palpebral fissures. | / | t(3;7) (q26.2;q36.1) | Exon 37 |
[34] | Male, 15y | - | - | - | + | + | + | Restlessness | / | / | c.12898T > C | p.Ser4300Pro |
Male, 14y | + | - | - | - | + | - | Sightly coarse facies, Dysphagia | / | / | |||
Male, 8y | - | - | - | - | + | + | Dysphagia, Astigmatism | / | / | |||
[35] | Female, 6y2m | + | + | - | - | - | - | Macrocephaly | Mild dysmorphic | / | deletion arr[hg19] 7q36.1 (151,839,151–151,965,981)×1 | / |
[32] | Female, 17y | + | + | - | - | - | - | Hearing loss | Marked infra-orbital creases, downslanting palpebral fissures, a duplicated right thumb. | / | c.4744G > T | p.Gly1582* |
Female, 4y | + | + | - | - | - | - | Hydrocephalus, Hypoplasia of cerebellar vermis | Marked plagiocephaly and bilateral marked bulging just below the temporal region | / | c.8849_8850delAT | p.His2950Argfs*17 | |
Female, 5y | + | + | - | - | + | - | Insensitivity to pain, Abnormal gait, Constipation | / | / | c.14526dupG | p.Pro4843Alafs*12 | |