TABLE 3.
Clinical and molecular data of patients with FAM111B variants and liver involvement
| Mercier et al., 2015 | Seo et al., 2015 | Goussot et al., 2017 | Zhang et al., 2019 | Dokic et al., 2020 | Roversi et al., 2021 (present report) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Characteristics | P1 (13 years) Origin: Italy | P2 (4 years) Origin: France | P3 (5 years) Origin: Ireland | P4 (23 years) Origin: Dominican Republic | P5 (32 years) Origin: Canada | P6 (28 years) Origin: Canada | P7 (8 years) Origin: Canada | P8 (10 years) Origin: Canada | P9 (27 years) origin:France | P10 (14 months) origin: China | P11 (6 years) Origin: Mexican | P12 (17 years) Italian |
| Sex | Female | Female | Female | Male | Male | Female | Female | Female | Female | Female | Female | Male |
| Hepatomegaly | + | − | − | − | n/a | n/a | + | + | − | n/a | + | + |
| Elevated serum ALT/AST | n/a | AST: 63 IU/L, ALT: 56 IU/L | AST:210 IU/L, ALT: 151 IU/L | AST: 100 IU/L, ALT: 132 IU/L | + (data not available) | + (data not available) | AST: 178 IU/L, ALT: 251 IU/L | + (data not available) | + (data not available) | AST: 202 U/L, ALT: 208 U/L | + (data not available) | AST 143 IU/L, ALT 198 IU/L |
| Liver biopsy | n/a | n/a | n/a | n/a | n/a | n/a | 2‐years‐old: Mi | 1 and 3 years‐old: Mi, Ma, F | n/a | n/a | Several biopsies: C, F | 1 and 5 years‐old: Mi, Ma, C, F |
|
Liver ultrasound |
n/a | n/a | n/a | n/a | n/a | n/a | − | n/a | n/a | n/a | US: increased liver echotexture | US: cirrhosis, portal vein dilated |
| Blood test for cholestasis | + (data not available) | ALP: 308 IU/L (<335); GGT: 53 IU/L (<26) | ALP: 772 IU/L (<315); Bil tot: 33 mmol/l (<14) | ALP:129 IU/L (<129); GGT:106 IU/L (<58) | n/a | n/a | ALP 506 IU/L (<380), GGT 407 IU/L (<55) | n/a | n/a | − | − |
ALP 486 U/L, GGT 12 IU/L, Bil Tot 2.09 mg/dL, Bil Dir 1,55 mg/dL |
|
Gene analysis FAM111B mutations |
c.1879A > G (p.Arg627Gly) | c.1883G > A (p.Ser628Asn) | c.1883G > A (p.Ser628Asn) | c.1883G > A (p.Ser628Asn) | c.1261_1263delAAG (p.Lys421del) | c.1261_1263delAAG (p.Lys421del) | c.1261_1263delAAG (p.Lys421del) | c.1261_1263delAAG (p.Lys421del) | c.1884 T > A (p.Ser628Arg) | c.1247 T > C (p.Phe416Ser) | c.1881 C > T, (p.Arg672Ser) | c.1879A > G; (p.Arg627Gly) |
Abbreviations: −, negative; +, positive; C, cholestatis; F, fibrosis; ma, macrovescicular steatosis; Mi, microvescicular steatosis; MRI, magnetic resonance imaging; P, patient; US, ultrasound.