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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