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 |