Table 1.
Clinical information of selected patients
| Patient | Family 1–III:1 | Family 3–III:1 | Family 4–III:3 | Family 5–III:1 | Family 6–II:1 | Family 7–II:1 | Family 8–II:1 | Family 9–II:1 | Family 10–V:3 |
|---|---|---|---|---|---|---|---|---|---|
| Mutation gRNA (hg19) | chr6:g.368237 95C>T | chr6:g.368237 71T>C | chr6:g.368244 09T >C | chr6:g.368236 98C>T | chr6:g.[3682377 2 36823789dup; 36823765C>A] | chr6:g.[36824 397A>G];[368 23698C>T] | chr6:g.[36823 711T>C];[368 24361C>T] | chr6:g.[36823 711T>C];[368 39572G>A] | PRP17 hg19:chr6:110 550122T>G |
| Mutation cDNA PPIL1 NM 016059.1, PRP17 NM_015891.2 | c.295G>A | c.319A>G | c.233A>G | c.392G>A | c.[301_318dup; 325G>T] | c.[245T>C]; [392G>A] | c.[379A>G]; [280+1G>A] | c.[379A>G];[1 33C>T] | PRP17 c.1505T>G |
| Mutation Protein PPIL1 NP 057143.1, PRP17 NP_056975.1 | p.Ala99Thr | p.Thr107Ala | p.Tyr78Cys | p.Arg131Gln | p.[Ala101_Asp10 6dup;Gly109Cys ] | p.[Phe82Ser; Arg131Gln] | p.[Thr127Ala];[ ?] | p.[Thr127Ala];[Arg45*] | PRP17 p.Phe502Cys |
| Gender | Male | Male | Female | Female | Female | Male | Female | Male | Female |
| Ethnic origin | Egyptian | Pakistani | Mexican | Egyptian | Pakistani | Chinese | European-American | European-American | Egyptian |
| Parental consanguinity Head | + | + | + | + | − | − | − | − | + |
| circumference (HC) at birth | 28cm (−6SD) | 30cm (−4SD) | 28cm (−4.5SD) | 29cm (−4SD) | 30cm (−4SD) | 30cm (−2.5SD) | 29cm (−4SD) | 32cm (−2SD) | 30cm (−3SD) |
| HC at last examination | 36cm (−8SD) at 9 mos | 39cm (−5SD) at 1 y | 36cm (−8SD) at 9 mos | 37cm (−6SD) at 9 mos | 39cm (−5SD) at 1 y | 45cm (−4SD) at 4 y | 43cm (−8SD) at age 10 y | 45.5cm (−6SD) at 13 y | 42 cm (−5SD) at 4y |
| Pontocerebellar hypoplasia | + | + | + | + | + | + | + | + | + |
| Simplified cortical gyral patterning | + | + | + | + | + | − | − | − | |
| Agenesis of corpus callosum | + | + | Partial | + | Partial | Partial | Partial | ||
| Cerebellar hypoplasia | + | + | + | + | + | + | + | + | + |
| Brainstem hypoplasia | + | + | + | + | + | + | + | + | + |
| Hydrocephalus | − | − | − | − | + | − | − | − | |
| White matter abnormalities | − | − | Delayed myelination | − | − | − | Delayed myelination | − | |
| Intellectual Disability | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe | Severe |
| Seizure Onset | Birth | - | Infancy | Infancy | - | Infancy | Infancy | Infancy | Infancy |
| Seizure Type | Focal | - | Focal | Generalized | - | Myoclonic | Infantile spasms | Infantile spasms | Myoclonic / GTC |
| Seizure Frequency | Intractable | - | Infrequent | Infrequent | - | Monthly | Intractable | Daily, Intractable | Intractable |
| Gross motor | Absent | Absent | Absent | Delayed | Absent | Delayed | Absent | Absent | Delayed |
| Fine motor | Absent | Absent | Absent | Absent | Absent | Delayed | Absent | Absent | Absent |
| Language | Absent | Absent | Absent | Absent | Absent | Delayed | Absent | Absent | Absent |
| Social | Absent | Absent | Absent | Absent | Absent | Delayed | Absent | Absent | Absent |
| Hypertonia | Mild | - | - | Mild | - | Mild | Mild | Mild | |
| Hypotonia | - | Severe | Severe | Mild | Severe | - | Mild | Mild | - |
| Deep tendon reflexes | Brisk | Brisk | Brisk | Brisk | Brisk | - | Brisk | Brisk | Brisk |
| Spastic tetraplegia | + | + | + | + | ++ | − | + | + | + |
| Other | Died at 8mos; Inguinal hernia | Died at 2 mos; Persistent thrombocytop aenia | Dystonia; Chronic neutropenia | Died at 2 mos | Dystonia; Chronic neutropenia | Dystonia | Chronic anemia and thrombocytope nia |