From: Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Characteristics | GAMOS3 | GAMOS1 |
---|---|---|
Mutant gene | OSGEP on chromosome 14q11 | WDR73 on chromosome 15q25 |
Pattern of inheritance | Autosomal recessive | Autosomal recessive |
Frequency in patients with GAMOS | High (24 of 32 families) [9] | |
Facial dysmorphism | The aged face comprising features: Narrow forehead, large floppy ears, deep-set eyes, coarse hair, beaked nose, prominent nasal bridge, microphthalmia, hypertelorism, micrognathia, high-arch palate [9, 14,15,16,17] | Coarse facial features: full lips and cheeks, broad forehead, bushy eyebrows, flat nasal root with fleshy nasal tip [8] |
Skeletal deformity | Arachnodactyly, camptodactyly, clenched hands | No |
Renal features | ||
Age of onset of proteinuria | Early-onset (< 3 months) | Late-onset |
Degree of renal disease | Heavy proteinuria with Nephrotic syndrome | Variability, from no renal involvement, mild proteinuria, to nephrotic syndrome |
Renal lesions | Light microscope: minimal change disease, focal segmental glomerulosclerosis (FSGS), diffuse mesangial sclerosis, collapsing glomerulopathy, or microcystic dysplasia [9] | |
Electron microscope: foot process effacement, irregular thickness of the glomerular basement membranes [9, 14] | ||
End stage renal disease | Common | Rare |
Neurological features | ||
Microcephaly | Primary (prenatal) microcephaly | Secondary (postnatal) microcephaly |
Clinical presentations | Severe psychomotor retardation, global developmental delay, hypotonia, intractable seizure | Neurodegenerative course, developmental delay, seizure, intellectual disability, cerebellar ataxia, optic atrophy [4,5,6,7,8] |
Brain MRI | Gyral abnormalities (all): lissencephaly, pachygyria, or polymicrogyria Myelination defect (most) Cerebellar atrophy (some, 9 of 28) [9] | Cerebellar atrophy (all) [4,5,6,7,8] Other abnormalities: thin corpus callosum, brain stem hypoplasia [4,5,6,7,8] |
Prenatal ultrasonographic findings | Microcephaly, intrauterine growth retardation, and oligohydramnios | No specific findings |