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Table 2 Different presentations between patients with GAMOS3 and GAMOS1

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] Low (2 of 31 or 2 of 40 families) [4, 7]
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] Light microscope: FSGS, collapsing FSGS [4, 8]
  Electron microscope: foot process effacement, irregular thickness of the glomerular basement membranes [9, 14] Electron microscope: podocyte hypertrophy [4, 8]
 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