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Table 1 Summary of clinical findings in patients carrying PIGV, PIGO, PGAP2, PGAP3, PIGW, and PIGY mutations

From: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

  HPMRS1 PIGV (n = 26, excluding 2 fetus) HPMRS2 PIGO (n = 16) HPMRS3 PGAP2 (n = 12) HPMRS4 PGAP3 (n = 26) HPMRS5 PIGW (n = 3) HPMRS6 PIGY (n = 4)
Hyperphosphatasia 26/26 14/14, ND in 2 6/6, ND in 6 25/26 1/3 4/4
Growth parameters
 OFC Normal in 22/26 (microcephaly in 2/26, macrocephaly in 2/26) Normal in 2/6 (microcephaly in 4, macrocephaly in 2, ND in 8) Normal in 5/12 (microcephaly in 7) Normal in 17/26 (microcephaly in 7, macrocephaly in 2) Normal in 2 (ND in 1) Normal in 2/4 (microcephaly in 2)
 Height Normal in 24/26 Normal in 3/5 (short stature in 2, ND in 11) Normal in 2/2, ND in 10 Normal in 25/26 (short stature in 1/26) Normal in 2 (ND in 1) Normal in 2/4 (short stature in 2/4)
 Weight Normal in 24/26 Normal in 4/5 (dystrophy in 1, ND in 11) Normal in 2/2, ND in 10 Normal in 21/26 (overweight in 2/26, dystrophy in 3/26) Normal in 2 (ND in 1) ND
Neurological phenotype
 Global developmental delay 26/26 16/16 2/2 26/26 3/3 4/4
 Motor delay 26/26 16/16 12/12 (mild in 5) 26/26 3/3 4/4
 Speech and language developmental delay 26/26 (no speech in 6/10) 16 (no speech in 5/16) 11/12 26/26 (no speech in 20/26) 3/3 4/4
 Muscular hypotonia 18/24, ND in 2 11/11, ND in 5 5/6, ND in 6 23/26 2/2, ND in 1 ND
 Seizures 20/26 11/12, ND in 4 8/12 17/26 Autistic traits 1/3 2/4
 Behavioral abnormalities ND ND ND 21/26 ND 2/4
 Other neurological abnormalitites Hearing loss Hearing impairment (5/16), thin corpus callosum Hearing impairment Ataxia (10/26); no walking in 8/26 - Regression of acquired skills (2/4)
  HPMRS1 (PIGV) HPMRS2 (PIGO) HPMRS3 (PGAP2) HPMRS4 (PGAP3) HPMRS5 (PIGW) HPMRS6 (PIGY)
Malformations
 Cleft palate 8/26 4/16 1/12 15/26 - 0/4
 Megacolon 8/26 5/16 1/12 0/26 - 0/4
 Anorectal malformations 9/26 3/16 1/12 0/26 - 0/4
 Vesicoureteral/renal malformations 6/10 2/16 ND 0/26 - 1/4
 Heart defect 5/26 2/16 2/12 2/26 - 0/4
 Facial gestalt
 Apparent hypertelorism 26/26 6/6, ND in 10 1/12 12/13, ND in 13 ND 1/4
 Up-slanting palpebral fissure 26/26 10/11, ND in 5 ND in 12 2/26 ND 0/4
 Broad nasal bridge 26/26 5/6, ND in 10 2/12 13/13, ND in 13 1/3 ND in 2 1/4
 Broad nasal tip 26/26 5/6, ND in 10 1/12 4/14, ND in 12 ND 1/4
 Short nose 26/26 5/6, ND in 10 1/12 14/24, ND in 2 ND ND
 Tented upper lip vermilion 26/26 7/8, ND in 8 2/12 17/24, ND in 21 3/3 ND
 Large, fleshy ear lobes - 1/16   18/24, ND in 21 ND 4/4
 Brachytelephalangy 26/26 10/10, ND in 6 0/12 (broad nails in 1/12) 0/26 (broad nails in 6/26) - 1/4
 Further anomalies (rare) Gastroesophageal reflux, optic atrophy bilateral, scoliosis, hip subluxation (right), thin corpus callosum, gingiva hyperplasia Coronal synostosis, keratoderma, micrognathia, auricular malformations   Thin corpus callosum (9/26), ventriculomegaly (3/26), vermis hypoplasia (4/26) Inguinal hernia (1/3) Cataracts (2/4)
Rhizomelic shortness of limbs (2/4)
Contractures (2/4)
Hip dysplasia (2/4)
 Published cases Rabe et al. 1991 [33] Krawitz et al. 2012 [7] Hansen et al. 2013 [4] Howard et al. 2014 [5] Chiyonobu et al. 2014 [3] Ilkovski et al. 2015 [6]
Marcelis et al. 2007 [34] Kuki et al. 2013 [36] Krawitz et al. 2013 [8] Knaus et al. 2016 [19] Hogrebe et al. 2016 [20]
Krawitz et al. 2010 [9] and Horn et al. 2010 [60] Nakamura et al. 2014 [16] Jezela-Stanek et al. 2016 [18] Pagnamenta et al. 2017 [40]
Horn et al. 2011 [28] Xue et al. 2016 [31] Naseer et al. 2016 [38] Nampoothiri et al. 2017 [41]
Thompson et al. 2012 [29] Morren et al. 2017 [35] Abdel-Hamid et al. 2017 [39]
Horn et al. 2014 [30] Zehavi et al. 2017 [17] 2 unpublished cases
Xue et al. 2016 [31] Tanigawa 2017 [37]
Reynolds et al. 2017 [32]
6 unpublished cases
  1. ND not documented; OFC occipitofrontal head circumference