Table 1 Clinical characteristics of homozygous FAT1 mutations carriers
Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
IV:1 | IV:3 | IV:5 | III:2 | IV:1 | IV:3 | IV:1 | IV:3 | II:3 | II:1 | |
FAT1 mutation (All homozygous) | c.2207dupT (p.I737NfsX7) | c.2207dupT (p.I737NfsX7) | c.2600_2601delCA (p.T867IfsX4) | c.9729del (p.V3245LfsX25) | c.3093_3096del (p.P1032CfsX11) | |||||
Ethnicity | Morocco | Morocco | Middle-East | Pakistan | Turkey | |||||
Consanguinity | + | + | + | + | + | |||||
Sex | F | M | M | F | F | M | M | M | M | M |
Age (years) | 39 | 34 | 18 | 36 | 8 | 2 | 27 | 24 | 8 | 8 |
Intellectual disability | − | − | − | − | − | − | − | + | + | + |
Ocular features | ||||||||||
Iris coloboma | − | − | B | U | − | B | − | − | − | − |
Retinal coloboma | B | − | B | B | B | B | − | U | − | − |
Ptosis | B | B | B | B | U | B | − | B | U | B |
Microphtalmia | − | − | B | − | U | U | − | U | – | − |
Feet abnormalities | ||||||||||
Syndactyly | − | 3rd−4th RF, 3rd−4th LF | 3rd−4th RF, 3rd-5th LF | 3rd−4th RF | 2nd–3rd RF | 1st–2nd LF, 3rd–4th RF | 3rd–4th RF; Bone fusion | 3rd–4th RF; Bone fusion; phalanx hypotrophy | 4th−5th bilaterally | − |
Renal manifestations | ||||||||||
Nephropathy | + | − | + | − | − | − | + | + | − | + |
Biopsy (at age) | n/a | n/a | n/a | n/a | n/a | n/a | FSGS (20 years of age) | n/a | n/a | TIN, MS, thin GBM (12 years) |
