TABLE 1.
Molecular and clinical features of PHIP individuals.
| Frequency Craddock et al., 2019 (n = 10) | Frequency (n = 25) Jansen et al., 2018, Webster et al., 2016 | Frequency present cohort | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | 22 | 23 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genotype | g.79735299G>T | g.79713575T>A | 6q14.1 (79,719,926_79770881)x1 (51 kb) | 6q14.1 (79770308–81454326)x1 (1.68 Mb) | g.79675705G>A | g.79671432_79671435del | g.79668268G>A | g.79664637dup | g.79787173_79787175del | 6q14.1 (76086087_80285061)x1 (4.2 Mb) | g.79688310T>C | g.79724816G>A | g.79700597_79700600del | del (6) (q13q14.1) (75784986_80341335)x1 (4.55 Mb) | 6q14.1 (79745807–80187057)x1 (441 kb) | g.79655835G>A | g.79655835G>A | g.79707284G>T | g.79707284G>T | g.79664637dup | g.79695088_79695089insTGTGTGTG | g.79770194C>A | g.79727252T>G | |||
| c.860C>A | c.1525A>T | c.3274C>T | c.3631_3634del | c.3706C>T | c.3947dup | c.180_182del | c.2888A>G | c.1507C>T | c.2306_2309del | c.4513C>T | c.4513C>T | c.2048C>A | c.2048C>A | c.3947dup | c.2521_2522insCACACACA | c.439 + 1G>T | c.1043A>C | |||||||||
| p. (Ser287Tyr) | p. (Ile509Phe) | p. (Gln1092*) | p. (Gln1211Aspfs*13) | p. (Arg1236*) | p. (Tyr1316*) | p. (Tyr60*) | p. (Glu963Gly) | p. (Arg503*) | p. (Pro769Leufs*43) | p. (Arg1505*) | p. (Arg1505*) | p. (Ser683*) | p. (Ser683*) | p. (Tyr1316*) | p. (Ser841Thrfs*65) | p.? | p. (Tyr348Ser) | |||||||||
| CADD 27.6 | CADD 32 | CADD 41 | CADD 33 | CADD 39 | CADD 33 | CADD 33 | CADD 35 | CADD 39 | CADD 32 | CADD 39 | CADD 39 | CADD 39 | CADD 39 | CADD 33 | CADD 33 | CADD 35 | CADD 26.5 | |||||||||
| gnomAD | - | - | - | - | - | - | - | - | - | - | - | 1/250,618 | - | - | - | - | - | - | - | - | - | - | - | |||
| Average age (yrs) | 9 | 18 | 20 | 10 | 12 | 5 | 13 | 12 | 16 | 49 | 11 | 5 | 39 | 7 | 15 | 43 | 54 | 37 | 16 | 41 | 11 | 8 | 16 | 10 | 16 | 9 |
| Sex | F:M = 5:5 | F:M = 14:11 | F:M = 10:13 | M | M | F | F | M | F | M | M | F | F | F | F | F | M | M | F | M | M | M | M | M | M | F |
| Neonatal issues | Feeding difficulty (70%), Hypotonia (40%) | Feeding difficulty (33%) | Feeding difficulty (18%) | Icterus neonatorum | Plagiocephalus | Feeding difficulty | Feeding difficulty | Mild jaundice and neonatal hypoglycemia | - | Preterm issues | - | Feeding difficulty | Dehydratation and jaundice, feeding difficulty | Hip dysplasia, unilateral cong. Hip luxation | - | Suppletion for low iron | Clubfeet, hypotonia | Syndactyly of 2–3 toes | Feeding difficulty hypotonia | Hypotonia, exomphalos | Dyspnea | - | Newborn jaundice | Newborn jaundice | - | Cleft lip |
| DD | 100% | 100% | 95.5% | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | - | + | + | + |
| ID | 100% | 92% | 91.3% | + | - | + | + | + | + | + | + | + | + | - | + | + | + | + | + | + | + | + | + | + | + | + |
| Behavioral problems | 100% | 92% | 86.96% | - | + | + | + | + | + | + | + | - | + | + | + | + | + | + | + | - | + | + | + | + | + | + |
| Facial Dysmorphism | 100% | 96% | 100% | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Other Dysmorphism | 60% | 79.2% | 77.3% | + | + | + | - | + | + | + | + | + | + | + | + | - | + | + | + | + | + | - | + | + | + | + |
| Neurologic issues | Hypotonia (80%), Seizures (20%) | Hypotonia (32%) | Hypotonia (34.78%), Balance problems (30.43%), Seizures (17.39%) | + | + | - | + | + | + | + | + | + | + | + | + | + | + | + | - | - | - | - | + | + | + | + |
| Gastrointestinal problems | Constipation (70%) | Constipation (8%) | Constipation (34.78%) | - | - | - | + | + | - | - | - | + | - | + | + | + | + | - | - | - | + | - | - | - | - | - |
| Overweight/Obesity | 30% | 76% | 69.6% | + | + | + | + | - | + | - | + | - | + | - | - | - | - | + | + | + | + | + | + | - | - | - |
DD: developmental delay. ID: intellectual disability.