Introduction
Methods
Patients
Generation of ARID1B knockdown human fibroblast
Quantitative real-time PCR analysis
Serum starvation assay
Sanger sequencing of ARID1B and whole Exome sequencing
Results
Identification of patient 1
ARID1B haploinsufficiency in patient 1
Entry to S1 phase is delayed in patient 1
Identification of four additional patients with ARID1B mutations
Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
---|---|---|---|---|---|
Previously published | - | - | Patient 5 in Wright et al., 2011 [18] | - | Patient 6 in Wright et al., 2011 [18] |
Age at assessment | 8y | 2y | 6y 10m | 5y | 8y 2m |
Height centile | 50th | 10-25th | 25th | 3rd | 2nd |
Weight centile | 50-75th | 25th | 50-75th | 25th | 2nd |
Head circumference | 50-98th | 25th | 50-98th | 25th | 50th |
Heel Fat pads | + | + | + | + | + |
Fetal finger and toe pads | + | + | + | NR | + |
Fifth nail hypoplasia | - | - | - | - | - |
Hirsutism | - | - | - | - | + |
ID | Mod | Mod | Mild | Mod | Mod |
Speech | Absent | Absent | Delayed | Absent | Delayed |
Seizures | - | + | - | + | - |
Drooling | + | + | + | - | + |
Feeding difficulty | + | - | Mild | - | - |
Scoliosis | - | - | - | - | + |
Inguinal hernia | - | - | - | - | - |
Neuroimaging | Mega cisterna magna on brain MRI | Normal brain MRI | Hypoplastic posterior elements of corpus callosum on MRI | Head CT in first year of life, normal | Normal |