TABLE 1.
Genetic and clinical features of COG5-CDG patients whose data are available.
| Case | Ref | M/F | Age of onset | Race | Mutation | Allele frequency in GnomAD | ID/development delay 8/8 | Hypotonia 7/8 | Brain MRI 4/8 | Microcephaly 6/8 | Vision abnormalities 5/8 | Neurogenic bladder 4/8 | Ataxia 3/8 | Liver lesion 3/8 | Facial dysmorphism 2/8 | Others |
| 1 | Present case | F | 4 years | Chinese | c.2077A > C, p.T693P; c.1290C > A, p.Y430X | 0.000004; 0.000012 | +/+ | – | – | – | Choroidopathy; hypoplasia of macula; convergent strabismus | – | + | Increased ALT and AST levels | – | Hypohidrosis, hyperkeratosis; deviation of finger; coagulation defect |
| 2 | Paesold-Burda et al. (2009) | F | 8 years | Iraqi | c.1669-15A > G | 0 | +/+ | + | Diffuse atrophy of cerebellum and brain stem | – | Ocular motor apraxia | – | + | – | – | – |
| 3 | Fung et al. (2012) and Rymen et al. (2012) P2 | F | 1 month | Chinese | c.556_560 delAGTAAinsCT; c.1919T > C, p.I640T; c.95T > G, p.M32R | 0; 0.00156037; 0.0000323206 | +/+ | + | Delayed myelination | + | – | – | – | Liver cirrhosis; mild hepato- splenomegaly | – | Mild thrombocytopenia; persistent mild hyperlactacidemia; portal hypertension; fixed flexion contractures of all fingers |
| 4 | Rymen et al. (2012) P1.1 | F | 1 year | Moroccan | c.2518G > T, p.E840X | 0 | +/+ | + | Global decrease of white matter; enlarged lateral ventricles | + | – | – | – | – | Posteriorly rotated, low set ears, a prominent nose and low hair line | – |
| 5 | Rymen et al. (2012) P1.2 | F | N/A | Moroccan | c.2518G > T, p.E840X | 0 | +/+ | + | N/A | + | – | + | + | – | – | Slight dysmorphism; autistic behavior |
| 6 | Rymen et al. (2012) P1.3 | F | 8 months | Moroccan | NA | – | +/+ | + | – | + | Strabismus | + | – | – | – | Autistic behavior |
| 7 | Rymen et al. (2012) P3 | M | 3 months | Italian | c.189delG, p.C64Vfs*6; c.2338_2340 dupATT, p.I780dup | 0.0000322872; 0 | +/+ | + | Severe supra- and subtentorial brain atrophy | + | Strabismus; cortical blindness | + | N/A | hepatomegaly | – | Sensorineural deafness; recurrent urinary tract infection; spastic quadriplegia; scoliosis |
| 8 | Rymen et al. (2012) P4 | M | At birth | Belgian | c.1780G > T, p.V594F | 0 | +/+ | + | – | + | Cortical blindness | + | N/A | – | Low set, posteriorly rotated ears, a prominent nose with a broad root and retrognathia | Sensorineural deafness; hypohidrosis, epilepsy; micropenis with cryptorchidism; campodactyly and clinodactyly; flexion contractures of knees and elbows |
NA = not available. All mutations are stated as in NM_006348.