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Table 1 Summary of clinical features and mutations in PIGO-deficient patients

From: PIGO deficiency: palmoplantar keratoderma and novel mutations

  Krawitz et al. (pt A1) Krawitz et al. (pt A2) Krawitz et al. (pt B1) Kuki et al. Nakamura et al. (pt 1) Nakamura et al. (pt 2) Xue et al. Present report
Age 15 years at publication 12 years at publication Died at 22 months 9 years at publication 19 years at publication Died at 1 year 26 months at publication 22 years at present
Gender Female Female Female Male Male Female Male Male
Psychomotor disability Severe Moderate Severe Moderate Severe Severe Moderate/severe Moderate
Microcephaly NA NA + + + NA Not at birth -
Epilepsy - - + + + + + +
Facial dysmorphism Hypertelorism, wide-set eyes, long palpebral fissures, short nose, broad nasal bridge and tip, tented mouth Hypertelorism, wide-set eyes, long palpebral fissures, short nose, broad nasal bridge and tip, tented mouth Facial asymmetry, hypertelorism, wide-set eyes, long palpebral fissures, short nose, broad nasal bridge and tip, tented mouth, large ears with fleshy and uplifted earlobes Coarse face, hypertelorism, blepharophimosis, short nose, broad nasal bridge, L cleft lip, low-set ears High arched palate, tented mouth - - Broad nasal bridge, relatively large mouth, fusion of upper medial milk incisors, W-shaped upper lip, coarse ears, R preauricular tag
Brachytelephalangy + + + + - - - +
Nail hypoplasia Fingers and toes Fingers and toes Fingers and toes NA - - - Toes
Anorectal abnormalities Anal stenosis Anal stenosis Anal atresia with perineal fistula Hirschsprung disease NA NA - Mild anal prolapse on pressure
Hyperphosphatasemia + + + + + + + +
Other features Growth retardation, broad halluces, vesicoureteral reflux Broad halluces, atonic bladder Growth retardation, L coronal synostosis, broad halluces, atrial septal defect, peripheral pulmonary synostosis, enlarged supratentorial ventricular system Deafness, hypotonia, tetralogy of Fallot, brain hypomyelination Chorea, hypotonia, abnormal auditory brain response, cerebral and cerebellar atrophy at 6 years   Brain diffusion-weighted magnetic resonance imaging: slightly high signal in globus pallidus and dorsal brain stem Macrocephaly, convergent strabism, palmoplantar keratoderma, hemangioma R upper thorax, exorotation of the feet, hypotonia, hyperlaxity, camptodactyly of fingers, hypogonadism, enlarged lateral ventricles, thin corpus callosum, small white matter lesions
Mutations: cDNA/protein c.2869C > T/p.Leu957Phe
c.2361dupC/p.Thr788Hisfs*5
c.2869C > T/p.Leu957Phe
c.2361dupC/p. Thr788Hisfs*5
c.2869C > T/p.Leu957Phe
c.3069 + 5G > A
c.355C > T/p.Arg119Trp
c.23497_23498del/p.Ala834fs
c.389C > A/p.Thr130Asn
c.1288C > T/p.Gln430*
c.389C > A/p.Thr130Asn
c.1288C > T/p.Gln430*
c.458 T > C/p.Phe153Ser
c.1355_1356del/p.Ala452Glyfs*52
c.2612A > C/p.His871Pro
c.1810dupC/p.Arg604ProfsTer40
  1. NA not available