Table 2.
Clinical and molecular findings of previous reported cases with GLIS3 mutations.
| No. | M/F | Consanguinity | Origin | B.W (kg) | NDM | Pancreas | Hypothyroidism | Eye | Kidney | Liver | Additional features | Mutation Type | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1a | F | Yes | Saudi- Arabia | 2.2 | 2 d | Small | Yes | No | Multiple small cysts | Fibrosis and canalicular cholestasis | Dysmorphism | c.2067insC (p.625fs703stop) |
(17, 18) |
| 2a | M | Yes | Saudi- Arabia | 1.5 | 7 d | Not visualized | Yes | CG | Multiple small cysts | Fibrosis and canalicular cholestasis | Dysmorphism | c.2067insC (p.625fs703stop) |
(17, 18) |
| 3a | M | Yes | Saudi- Arabia | 1.4 | 7 d | NA | Yes | CG | No | Hepatomegaly | Dysmorphism | c.2067insC (p.625fs703stop) |
(17, 18) |
| 4 | F | Yes | Saudi- Arabia | 1.64 | Yes | Hypoplastic pancreas | Yes Agenesis |
CG | No | Hepatomegaly | Dysmorphism | 426kb-del/ 426kb-del |
(17, 18) |
| 5b | M | Yes | France | 1.9 | Yes | NA | Yes No uptake |
No | No | No | Dysmorphism MR |
149kb-del/ 149kb-del |
(17, 18) |
| 6b | M | Yes | France | 1.8 | Yes | Small | Yes Hypoplastic |
No | No | Moderate steatosis | Dysmorphism MR |
149kb-del/ 149kb-del |
(17, 18) |
| 7 | F | Yes | Bangladeshi | 1.17 | 3 d | NA | Yes (Normal) TSH resistance |
No | Cystic dysplasia | Cirrhosis | Exocrine insufficiency, Osteopenia |
Exons 1–2 del/ Exons 1-2 del |
(20, 21) |
| 8c | M | No | Welsh | 1.43 | 4 d | Cystic change in the head of the pancreas | Yes (Normal) TSH resistance |
No | Cystic dysplasia | Moderate parenchymal cholestasis | Exocrine insufficiency, Sensorineural deafness |
Exons 1–4 del/ Exons 1-4 del |
(20, 21) |
| 9c | M | No | Welsh | 2.02 | 2 d | NA | Yes | No | Renal cysts | Yes | Exocrine insufficiency | Exons 1-4 del/ Exons 1-4 del |
(21) |
| 10 | F | No | Caucasian | 2.75 | 2 d | NA | No | No | No | No | Choanal atresia | c.1765C>T p.Arg589Trp/Exons 1-11 del |
(21) |
| 11 | F | Yes | Arab | 1.75 | 2 d | NA | Yes (Agenesis) |
No | Cystic dysplasia | Hepatitis | No | Exons 5–9 del/ Exons 5-9 del |
(4, 21) |
| 12 | M | Yes | Arab | 2.05 | 5 d | NA | Yes | No | No | No | Skeletal anomalies | c.1608C>G p.Cys536Trp/Cys593Trp |
(4, 21) |
| 13 | F | NA | African-American | 1.53 | 7 d | NA | Yes (Normal) |
CG | Renal cysts | Cirrhosis | Sagittal craniosynostosis |
Exons 9-11 del/ Exons 9-11 del |
(21) |
| 14 | F | Yes | Yemeni | 1.23 | 3 d | NA | Yes (Normal) |
CG | Renal cysts | Hepatic fibrosis | Exocrine insufficiency | Exons 10-11 del/ Exons 10-11 del |
(21) |
| 15 | F | Yes | Pakistani | 1.86 | 1 d | NA | Yes | No | Renal cysts | No | Sensorineural deafness | c.932delG p.Gls311Alafs/ Gls311Alafs |
(21) |
| 16 | M | Yes | Turkish | 1.52 | 21 d | NA | Yes | No | Renal cysts | Hepatic fibrosis | No | Exons 3-4 del/ Exons 3-4 del |
(21) |
| 17 | M | Yes | Kurdish | 0.97 | 31 d | NA | Yes (Normal) |
CG | Renal cysts | Hepatic fibrosis | PDA | c.1681C>T p.His561Tyr/ His561Try |
(21) |
| 18 | M | Yes | Arab | 1.7 | 19 d | NA | Yes | CG | Renal cysts | No | ASD | Exons 1-2 del/ Exons 1-2 del |
(21) |
| 19 | M | Yes | Saudi-Arabia | 1.3 | 2 d | NA | Yes | CG | No | No | No | c.2312_2314dupTC p.Pro722Leufs*35/ Pro722Leufs*35 |
(22) |
| 20d | M | Yes | Arab | 0.98 | 1 d | Normal | Yes | CG | Renal cysts | Hepatitis | Psychomotor delay | c.2392C>T p.Gln798Ter/ Gln798Ter |
Current case |
| 21d | F | Yes | Arab | 1.6 | 1 d | Normal | Yes | CG | Renal cysts | Hepatitis | Psychomotor delay | c.2392C>T p.Gln798Ter/ Gln798Ter |
Current case |
a,b,c,dSiblings; CG, congenital glaucoma; BW, birth weight; NA, not available; ASD, atrial septal defect, PDA, patent ductus arteriosus; MR, mental retardation.