Table 2 Summary of genetics and clinical phenotypes of GAMOS 1–5 types
From: Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3
GAMOS1 | GAMOS2 | GAMOS3 | GAMOS4 | GAMOS5 | |
|---|---|---|---|---|---|
Gene | WDR73 (15q24-q26) | LAGE3 (Xq28) | OSGEP (14q11) | TP53RK (20q13.12) | TPRKB (2p13.1) |
Number of reported families (proportion) | 19/54(35.18%) | 3/54(5.55%) | 26/54(48.15%) | 4/54(7.40%) | 2/54(3.70%) |
Inheritance | AR | XL | AR | AR | AR |
Distribution area/ethnicity | Amish in North America; Arabs in Central Asia, West Asia, and North Africa | Not mentioned | Arab, Caucasians in North America, Taiwan, Spain, Pakistan | South Korea | not clear |
kidney phenotype | Half of the combined NS or ESRD | Not mentioned | Early-onset SRNS and ESRD; Partial kidney tubule dysfunction; Hypomagnesemia and hypercalciuria | Extremely early NS and ESRD | Not mentioned |
Time of appearance of kidney phenotype | 9 months ~ 8 years | Not mentioned | 2 days ~ 3 years and 11 months | 1 day ~ 8 days | Not mentioned |
kidney pathology | FSGS and DMS | FSGS and foot process fusion | MCD, FSGS, DMS and glomerular dysplasia, kidney tubular atrophy | FSGS with kidney tubular atrophy and interstitial fibrosis, glomerular dysplasia | FSGS and foot process fusion |
Nervous system phenotype | 80–90% of general developmental delay with hypotonia, microcephaly and extrapyramidal symptoms | Microcephaly | Similar to GAMOS1; refractory epilepsy | Microcephaly | Not mentioned |
Nervous System Image | 80% of microcephaly, some thin corpus callosum and cerebellum atrophy | Microcephaly with multiple cerebellar gyrus and diffuse cerebellar atrophy | Abnormal gyri and myelin development, part of cerebellum atrophy | Microcephaly, cerebellar atrophy and subarachnoid hemorrhage | Microcephaly and pachygyria |
Ocular phenotype | Eye tremor and optic nerve atrophy | Not mentioned | Same as GAMOS1 | Not mentioned | Not mentioned |
Facial and bone abnormalities | Maxillofacial abnormalities (rough skin, thick eyebrows, broad nose, hirsutism and convex forehead) | Not mentioned | Maxillofacial abnormalities (narrow forehead, deep eye sockets, almond eyes, low ears, collapsed nose, small mandible and high palate), pectus excavatum | Maxillofacial abnormalities (similar to GAMOS3) | Not mentioned |
Other cases | 2/19 test tube baby; some close relatives married | Not mentioned | Aortic stenosis and high blood pressure; pyloric stenosis and hypothyroidism; some close relatives married | 2/4 IVF; intrauterine growth retardation; hiatal hernia and gastric volvulus | Not mentioned |
Average life span | 1.5—28 years old | Not mentioned | 2 months -8 years old | 21 days—10 months | Not mentioned |
Is it fatal in infancy | less | Not mentioned | The difference is large, most of them die within 1 year of age | Yes, die within 1 year of age | Not mentioned |