Table 1. List of the coding variants within FGF10 identified in patients with lethal lung developmental disorders, lacrimo-auriculo-dento-digital syndrome, and aplasia of the lacrimal and salivary glands.
| Genetic findings | Diseases | References |
|---|---|---|
| c.577C>T | ALSG, CAD, risk of COPD | Entesarian et al. (2005), Karolak et al. (2019) and Klar et al. (2011) |
| c.467T>G | LADD | Milunsky et al. (2006) |
| c.409A>T | ALSG, LADD | Milunsky et al. (2006) |
| c.240A>C | ALSG | Entesarian et al. (2007) |
| c.413G>A | ALSG, LADD | Entesarian et al. (2007) |
| c.317G>T | LADD | Rohmann et al. (2006) |
| c.237G>A, | ALSG | Seymen et al. (2017) |
| c.526 del | LADD, AcDys | Karolak et al. (2019) |
| c.218T>G | ALSG | Rodrigo et al. (2018) |
| c.68_70del | Risk of CTD | Zhou et al. (2020) |
Notes.
- ALSG
- aplasia of the lacrimal and salivary glands
- LADD
- lacrimo-auriculo-dento-digital syndrome
- AcDys
- acinar dysplasia
- CAD
- congenital alveolar dysplasia
- COPD
- chronic obstructive pulmonary disease
- CTD
- conotruncal defects