TABLE 1.
Clinical symptoms in presented patients with KAT6B mutation.
| Proband 1 | Proband 2 | Proband 3 | Proband 4 | Proband 5 | Proband 6 | |
|---|---|---|---|---|---|---|
| Mutation (cDNA) Protein alteration | c.3852_3864del, p.Asp1284GlufsTer46 | c.4026dupA, p.Pro1343ThrfsTer4 | c.5819delA, p.Gln1940Argfs*11 | c.3147G > A, p.Pro1049= | c.4455dupT, p.Asn1486fs | c.5012del, p.Gly1671Alafs*44 |
| Inheritance | De novo | De novo | De novo | De novo | De novo | De novo |
| Gender | Male | Male | Female | Male | Female | Female |
| Age of diagnosis | 12 months | 5 years 9 months | 21 years | 24 months | 12 month | |
| Current age | Died at the age of 3 years | Died at the age of 6 years 8 months | 25 years | 3 years | 15 month | 20 years |
| Prenatal period | Bilateral hydronephrosis, fetal movements poorly | Impending preterm delivery from 32 week of pregnancy | Uncomplicated | Uncomplicated | Uncomplicated | Uncomplicated |
| Time of delivery (weeks) | 38 | 35 | 37 | 40 | 39 | 37 |
| Birth weight (g) | 3220 | 2700 | 3250 | 3490 | 3570 | 3150 |
| Points of Apgar | 8 | 5 | 10 | 9/10/10/10 | 4/6/6 | 9/10 |
| Neonatal period | Incision of the urethral valve posterior, left nephrostomy and ureteropelvisplasty | Asphyxia, congenital pneumonia, laryngomalacia | Uncomplicated | Retracted chin, decreased muscle tone, congenital pneumonia | Decreased muscle tone, dysmorphia, systolic murmur | Mixed muscle tone |
| Feeding difficulties | + | + | + | − | + | + |
| Agenesis of the corpus callosum | + | + | − | − | + | − |
| Congenital heart defects | PFO | VSD | − | − | ASD, VSD | ASD |
| Cleft palate | − | High palate | Cleft uvula | − | High palate | − |
| Skeletal defects | Shoulder exostoses | Valgus knees | Valgus knees and feet | Valgus knees | − | Club feet and hands |
| Patellar anomalies | − | Patellar dysplasia; habitual dislocation of the right patellae, subluxation of the left patellae | Subluxation | − | − | Subluxation of the patella |
| Genital anomalies | Bilateral cryptorchidism, scrotum excavatum/showl | Bilateral cryptorchidism, hypoplasia of the scrotum; subcoronal hypospadias | − | Bilateral cryptorchidism | − | Clitoral hypertrophy |
| Hearing loss | + | − | − | + | + | + |
| Ocular finding | Eye fixation disorders | Nystagmus, left eye strabismus, myopia, astigmatism | Hypermyopia | Hypermyopia | Hypermyopia, astigmatism | Astigmatism, nystagmus |
| Microcephaly | + | + | + | − | + | − |
| Mask‐like face | + | + | + | + | + | − |
| Downslanting palpebral fissures | − | − | + | + | + | − |
| Blepharophimosis | + | − | + | − | + | + |
| Lacrimal duct anomalies | + | − | − | − | + | − |
| Tubular/bulbous nose | + | + | + | − | + | + |
| Prominent cheeks | + | + | + | − | + | ‐ |
| Low‐set/posteriorly rotated ears | + | + | + | − | + | + |
| Thin upper lip/lip vermilion | + | − | + | + | + | − |
| Long philtrum | + | − | + | − | + | + |
| Micro−/retrognathia | + | + | + | + | + | + |
| Dental anomalies | + | Abnormal and delayed teeth eruption, first tooth at 13 months of age (upper incisors) | Malocclusion | − | − | Delayed teeth eruption |
| Thyroid anomalies | Hypothyroidism | Hypothyroidism | Hypothyroidism | − | Hypothyroidism | – |
| Hand and fingers | Long thumbs | Long fingerlike thumbs | Long thumbs | Long thumbs, overlapping fingers | + | Long fingers, poor dermatoglyphics, radioulnar synostosis |
| Feet and toes | Great toes, club feet | Long overlapping toes | Valgus feet | Flat feet | + | Club feet |
| Flexion contractures | + | − | − | − | − | |
| Hypotonia | + | + | + | + | + | – |
| Developmental delay | + | + | + | + | + | + |
| Speech delay | + | + | + | + | + | + |
| Intellectual disability | NA | + | IQ 40 | NA | NA | + |
| Others symptoms | − | Instability of the elbows and ankles; multicystic kidneys; barrel‐shaped chest; epilepsy | Cleft uvula | Concave nipples, red palms, drooling | Café au lait spots, recurrent infections | Ptosis |
| Death | Yes, in 3 y | Yes, in 7 y | No | No | No | No |
Abbreviations: NA, not available; PFO, patent foramen ovale; VSD, ventricular septal defect.